nsv2781774
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Publication(s):Redin et al. 2016
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 192 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 321 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 321 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 177 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 459 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 471 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 427 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 427 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 437 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 437 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 424 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 424 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 321 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 321 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 177 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 459 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 471 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 427 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 427 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 437 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 437 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 424 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 424 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 61,662,609 | 61,662,609 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 61,662,688 | 61,662,688 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 61,916,373 | 61,916,373 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 61,916,417 | 61,916,417 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 2,178,327 | 2,178,327 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 2,178,327 | 2,178,327 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 2,408,151 | 2,408,151 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 2,408,151 | 2,408,151 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 3,582,140 | 3,582,140 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 3,582,140 | 3,582,140 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 3,649,383 | 3,649,383 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 3,649,383 | 3,649,383 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 3,899,261 | 3,899,261 | - |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 3,919,852 | 3,919,852 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 106,278,301 | 106,278,301 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 106,288,060 | 106,288,060 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 106,520,780 | 106,520,780 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 106,520,780 | 106,520,780 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 123,848,367 | 123,848,367 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 123,848,367 | 123,848,367 | - |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 124,161,322 | 124,161,322 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 124,161,322 | 124,161,322 | - |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 124,243,006 | 124,243,006 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 124,243,006 | 124,243,006 | - |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 124,327,197 | 124,327,197 | + |
nsv2781774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 124,327,197 | 124,327,197 | + |
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 61,889,744 | 61,889,744 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 61,889,823 | 61,889,823 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 62,143,508 | 62,143,508 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 62,143,552 | 62,143,552 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 2,081,621 | 2,081,621 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 2,081,621 | 2,081,621 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 2,311,445 | 2,311,445 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 2,311,445 | 2,311,445 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,485,434 | 3,485,434 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,485,434 | 3,485,434 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,552,677 | 3,552,677 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,552,677 | 3,552,677 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,802,555 | 3,802,555 | - | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,823,146 | 3,823,146 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 105,521,517 | 105,521,517 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 105,531,276 | 105,531,276 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 105,764,010 | 105,764,010 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 105,764,010 | 105,764,010 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 122,982,217 | 122,982,217 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 122,982,217 | 122,982,217 | - | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 123,295,172 | 123,295,172 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 123,295,172 | 123,295,172 | - | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 123,376,856 | 123,376,856 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 123,376,856 | 123,376,856 | - | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 123,461,047 | 123,461,047 | + | ||
nsv2781774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 123,461,047 | 123,461,047 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13659915 | interchromosomal translocation | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
nssv13659918 | copy number gain | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
nssv13659917 | interchromosomal translocation | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
nssv13659913 | interchromosomal translocation | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
nssv13659919 | copy number gain | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
nssv13659914 | intrachromosomal translocation | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
nssv13659920 | copy number gain | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
nssv13659912 | interchromosomal translocation | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
nssv13659910 | intrachromosomal translocation | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
nssv13659921 | copy number gain | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
nssv13659911 | intrachromosomal translocation | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
nssv13659916 | copy number gain | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
nssv13659922 | copy number gain | DGAP154 | Sequencing | Split read mapping | SCV000320794 | 13 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nssv13659915 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 61,662,609 | 61,662,609 | + | |
nssv13659918 | Remapped | Perfect | NC_000002.12:g.616 62688dupNC_000002. 12:g.61916417dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 61,662,688 | 61,662,688 | |
nssv13659917 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 61,916,373 | 61,916,373 | + | |
nssv13659918 | Remapped | Perfect | NC_000002.12:g.616 62688dupNC_000002. 12:g.61916417dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 61,916,417 | 61,916,417 | |
nssv13659913 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 2,178,327 | 2,178,327 | + | |
nssv13659919 | Remapped | Perfect | NC_000017.11:g.217 8327dupNC_000017.1 1:g.2408151dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 2,178,327 | 2,178,327 | |
nssv13659914 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 2,408,151 | 2,408,151 | + | |
nssv13659919 | Remapped | Perfect | NC_000017.11:g.217 8327dupNC_000017.1 1:g.2408151dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 2,408,151 | 2,408,151 | |
nssv13659914 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,582,140 | 3,582,140 | + | |
nssv13659920 | Remapped | Perfect | NC_000017.11:g.358 2140dupNC_000017.1 1:g.3649383dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,582,140 | 3,582,140 | |
nssv13659915 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,649,383 | 3,649,383 | + | |
nssv13659920 | Remapped | Perfect | NC_000017.11:g.358 2140dupNC_000017.1 1:g.3649383dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,649,383 | 3,649,383 | |
nssv13659917 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,899,261 | 3,899,261 | - | |
nssv13659912 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,919,852 | 3,919,852 | + | |
nssv13659910 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 106,278,301 | 106,278,301 | + | |
nssv13659921 | Remapped | Perfect | NC_000023.11:g.106 288060dupNC_000023 .11:g.106520780dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 106,288,060 | 106,288,060 | |
nssv13659911 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 106,520,780 | 106,520,780 | + | |
nssv13659921 | Remapped | Perfect | NC_000023.11:g.106 288060dupNC_000023 .11:g.106520780dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 106,520,780 | 106,520,780 | |
nssv13659912 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 123,848,367 | 123,848,367 | - | |
nssv13659916 | Remapped | Perfect | NC_000023.11:g.123 848367dupNC_000023 .11:g.124161322dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 123,848,367 | 123,848,367 | |
nssv13659911 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 124,161,322 | 124,161,322 | - | |
nssv13659916 | Remapped | Perfect | NC_000023.11:g.123 848367dupNC_000023 .11:g.124161322dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 124,161,322 | 124,161,322 | |
nssv13659910 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 124,243,006 | 124,243,006 | - | |
nssv13659922 | Remapped | Perfect | NC_000023.11:g.124 243006dupNC_000023 .11:g.124327197dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 124,243,006 | 124,243,006 | |
nssv13659913 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 124,327,197 | 124,327,197 | + | |
nssv13659922 | Remapped | Perfect | NC_000023.11:g.124 243006dupNC_000023 .11:g.124327197dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 124,327,197 | 124,327,197 | |
nssv13659915 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 61,889,744 | 61,889,744 | + | |||
nssv13659918 | Submitted genomic | [NC_000002.11:g.61 889823dup];[NC_000 002.11:g.62143552d up] | GRCh37 (hg19) | NC_000002.11 | Chr2 | 61,889,823 | 61,889,823 | |||
nssv13659917 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 62,143,508 | 62,143,508 | + | |||
nssv13659918 | Submitted genomic | [NC_000002.11:g.61 889823dup];[NC_000 002.11:g.62143552d up] | GRCh37 (hg19) | NC_000002.11 | Chr2 | 62,143,552 | 62,143,552 | |||
nssv13659913 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 2,081,621 | 2,081,621 | + | |||
nssv13659919 | Submitted genomic | [NC_000017.10:g.20 81621dup];[NC_0000 17.10:g.2311445dup ] | GRCh37 (hg19) | NC_000017.10 | Chr17 | 2,081,621 | 2,081,621 | |||
nssv13659914 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 2,311,445 | 2,311,445 | + | |||
nssv13659919 | Submitted genomic | [NC_000017.10:g.20 81621dup];[NC_0000 17.10:g.2311445dup ] | GRCh37 (hg19) | NC_000017.10 | Chr17 | 2,311,445 | 2,311,445 | |||
nssv13659914 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,485,434 | 3,485,434 | + | |||
nssv13659920 | Submitted genomic | [NC_000017.10:g.34 85434dup];[NC_0000 17.10:g.3552677dup ] | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,485,434 | 3,485,434 | |||
nssv13659915 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,552,677 | 3,552,677 | + | |||
nssv13659920 | Submitted genomic | [NC_000017.10:g.34 85434dup];[NC_0000 17.10:g.3552677dup ] | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,552,677 | 3,552,677 | |||
nssv13659917 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,802,555 | 3,802,555 | - | |||
nssv13659912 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,823,146 | 3,823,146 | + | |||
nssv13659910 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 105,521,517 | 105,521,517 | + | |||
nssv13659921 | Submitted genomic | [NC_000023.10:g.10 5531276dup];[NC_00 0023.10:g.10576401 0dup] | GRCh37 (hg19) | NC_000023.10 | ChrX | 105,531,276 | 105,531,276 | |||
nssv13659911 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 105,764,010 | 105,764,010 | + | |||
nssv13659921 | Submitted genomic | [NC_000023.10:g.10 5531276dup];[NC_00 0023.10:g.10576401 0dup] | GRCh37 (hg19) | NC_000023.10 | ChrX | 105,764,010 | 105,764,010 | |||
nssv13659912 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 122,982,217 | 122,982,217 | - | |||
nssv13659916 | Submitted genomic | [NC_000023.10:g.12 2982217dup];[NC_00 0023.10:g.12329517 2dup] | GRCh37 (hg19) | NC_000023.10 | ChrX | 122,982,217 | 122,982,217 | |||
nssv13659911 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 123,295,172 | 123,295,172 | - | |||
nssv13659916 | Submitted genomic | [NC_000023.10:g.12 2982217dup];[NC_00 0023.10:g.12329517 2dup] | GRCh37 (hg19) | NC_000023.10 | ChrX | 123,295,172 | 123,295,172 | |||
nssv13659910 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 123,376,856 | 123,376,856 | - | |||
nssv13659922 | Submitted genomic | [NC_000023.10:g.12 3376856dup];[NC_00 0023.10:g.12346104 7dup] | GRCh37 (hg19) | NC_000023.10 | ChrX | 123,376,856 | 123,376,856 | |||
nssv13659913 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 123,461,047 | 123,461,047 | + | |||
nssv13659922 | Submitted genomic | [NC_000023.10:g.12 3376856dup];[NC_00 0023.10:g.12346104 7dup] | GRCh37 (hg19) | NC_000023.10 | ChrX | 123,461,047 | 123,461,047 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Sample ID | HGVS | Type | Clinical Interpretation | ClinVar ID | Gender | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|---|
nssv13659915 | DGAP154 | interchromosomal translocation | SCV000320794 | Female | 13 | ||
nssv13659918 | DGAP154 | GRCh37: [NC_000002.11:g.61889823dup];[NC_000002.11:g.62143552dup] | copy number gain | SCV000320794 | Female | 13 | |
nssv13659917 | DGAP154 | interchromosomal translocation | SCV000320794 | Female | 13 | ||
nssv13659913 | DGAP154 | interchromosomal translocation | SCV000320794 | Female | 13 | ||
nssv13659919 | DGAP154 | GRCh37: [NC_000017.10:g.2081621dup];[NC_000017.10:g.2311445dup] | copy number gain | SCV000320794 | Female | 13 | |
nssv13659914 | DGAP154 | intrachromosomal translocation | SCV000320794 | Female | 13 | ||
nssv13659920 | DGAP154 | GRCh37: [NC_000017.10:g.3485434dup];[NC_000017.10:g.3552677dup] | copy number gain | SCV000320794 | Female | 13 | |
nssv13659912 | DGAP154 | interchromosomal translocation | SCV000320794 | Female | 13 | ||
nssv13659910 | DGAP154 | intrachromosomal translocation | SCV000320794 | Female | 13 | ||
nssv13659921 | DGAP154 | GRCh37: [NC_000023.10:g.105531276dup];[NC_000023.10:g.105764010dup] | copy number gain | SCV000320794 | Female | 13 | |
nssv13659911 | DGAP154 | intrachromosomal translocation | SCV000320794 | Female | 13 | ||
nssv13659916 | DGAP154 | GRCh37: [NC_000023.10:g.122982217dup];[NC_000023.10:g.123295172dup] | copy number gain | SCV000320794 | Female | 13 | |
nssv13659922 | DGAP154 | GRCh37: [NC_000023.10:g.123376856dup];[NC_000023.10:g.123461047dup] | copy number gain | SCV000320794 | Female | 13 |