nsv1159719
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Alsmadi et al. 2014
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: 180 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 179 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 439 SVs from 32 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv1159719 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 52,598,504 | 52,598,504 | + |
nsv1159719 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 49,142,315 | 49,142,315 | + |
nsv1159719 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017363818.1 | Chr17|NW_0 17363818.1 | 164,329 | 164,329 | + |
nsv1159719 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 50,675,864 | 50,675,864 | + | ||
nsv1159719 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 48,998,650 | 48,998,650 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv4024784 | interchromosomal translocation | KWS2 | Sequencing | Read depth and paired-end mapping | 21,718 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv4024784 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_017363818.1 | Chr17|NW_0 17363818.1 | 164,329 | 164,329 | + |
nssv4024784 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,598,504 | 52,598,504 | + |
nssv4024784 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 49,142,315 | 49,142,315 | + |
nssv4024784 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,675,864 | 50,675,864 | + | ||
nssv4024784 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,998,650 | 48,998,650 | + |