nsv499514
- Organism: Homo sapiens
- Study:nstd47 (Kidd et al. 2010b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,352
- Publication(s):Kidd et al. 2010
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: 583 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 316 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 19 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv499514 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 253,665 | 258,016 |
nsv499514 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070872.2 | Chr17|NW_0 04070872.2 | 193,663 | 198,014 |
nsv499514 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 103,456 | 107,807 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv585607 | copy number gain | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv585607 | Remapped | Perfect | NC_000017.11:g.253 665_258016dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 253,665 | 258,016 |
nssv585607 | Remapped | Perfect | NW_004070872.2:g.1 93663_198014dup | GRCh37.p13 | First Pass | NW_004070872.2 | Chr17|NW_0 04070872.2 | 193,663 | 198,014 |
nssv585607 | Submitted genomic | NC_000017.9:g.1034 56_107807dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 103,456 | 107,807 |