nsv3217465
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,834
- Publication(s):Chaisson et al. 2019
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: 271 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 415 SVs from 67 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3217465 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 39,102,954 (-329, +329) | 39,124,787 (-329, +329) | ||
nsv3217465 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 39,102,951 (-329, +329) | 39,124,784 (-329, +329) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14347227 | duplication | HG00512 | Sequencing | Sequence alignment | 3 | 13,827 |
nssv14347228 | duplication | SAMN00006466 | Sequencing | Sequence alignment | 2 | 14,137 |
nssv14347229 | duplication | HG00514 | Sequencing | Sequence alignment | 3 | 39,861 |
nssv14347230 | duplication | SAMN00006579 | Sequencing | Sequence alignment | 2 | 13,953 |
nssv14347231 | duplication | SAMN00006580 | Sequencing | Sequence alignment | 2 | 14,212 |
nssv14347232 | duplication | SAMN00006581 | Sequencing | Sequence alignment | 2 | 41,185 |
nssv14347233 | duplication | SAMN00001694 | Sequencing | Sequence alignment | 2 | 16,419 |
nssv14347234 | duplication | SAMN00001695 | Sequencing | Sequence alignment | 2 | 15,732 |
nssv14347235 | duplication | SAMN00001696 | Sequencing | Sequence alignment | 2 | 45,591 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14347227 | Submitted genomic | NC_000009.12:g.(39 102625_39103283)_( 39124458_39125116) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,102,954 (-329, +329) | 39,124,787 (-329, +329) | ||
nssv14347228 | Submitted genomic | NC_000009.12:g.(39 102625_39103283)_( 39124458_39125116) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,102,954 (-329, +329) | 39,124,787 (-329, +329) | ||
nssv14347229 | Submitted genomic | NC_000009.12:g.(39 102625_39103283)_( 39124458_39125116) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,102,954 (-329, +329) | 39,124,787 (-329, +329) | ||
nssv14347230 | Submitted genomic | NC_000009.12:g.(39 102625_39103283)_( 39124458_39125116) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,102,954 (-329, +329) | 39,124,787 (-329, +329) | ||
nssv14347231 | Submitted genomic | NC_000009.12:g.(39 102625_39103283)_( 39124458_39125116) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,102,954 (-329, +329) | 39,124,787 (-329, +329) | ||
nssv14347232 | Submitted genomic | NC_000009.12:g.(39 102625_39103283)_( 39124458_39125116) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,102,954 (-329, +329) | 39,124,787 (-329, +329) | ||
nssv14347233 | Submitted genomic | NC_000009.12:g.(39 102625_39103283)_( 39124458_39125116) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,102,954 (-329, +329) | 39,124,787 (-329, +329) | ||
nssv14347234 | Submitted genomic | NC_000009.12:g.(39 102625_39103283)_( 39124458_39125116) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,102,954 (-329, +329) | 39,124,787 (-329, +329) | ||
nssv14347235 | Submitted genomic | NC_000009.12:g.(39 102625_39103283)_( 39124458_39125116) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 39,102,954 (-329, +329) | 39,124,787 (-329, +329) | ||
nssv14347227 | Remapped | Perfect | NC_000009.11:g.(39 102622_39103280)_( 39124455_39125113) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 39,102,951 (-329, +329) | 39,124,784 (-329, +329) |
nssv14347228 | Remapped | Perfect | NC_000009.11:g.(39 102622_39103280)_( 39124455_39125113) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 39,102,951 (-329, +329) | 39,124,784 (-329, +329) |
nssv14347229 | Remapped | Perfect | NC_000009.11:g.(39 102622_39103280)_( 39124455_39125113) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 39,102,951 (-329, +329) | 39,124,784 (-329, +329) |
nssv14347230 | Remapped | Perfect | NC_000009.11:g.(39 102622_39103280)_( 39124455_39125113) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 39,102,951 (-329, +329) | 39,124,784 (-329, +329) |
nssv14347231 | Remapped | Perfect | NC_000009.11:g.(39 102622_39103280)_( 39124455_39125113) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 39,102,951 (-329, +329) | 39,124,784 (-329, +329) |
nssv14347232 | Remapped | Perfect | NC_000009.11:g.(39 102622_39103280)_( 39124455_39125113) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 39,102,951 (-329, +329) | 39,124,784 (-329, +329) |
nssv14347233 | Remapped | Perfect | NC_000009.11:g.(39 102622_39103280)_( 39124455_39125113) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 39,102,951 (-329, +329) | 39,124,784 (-329, +329) |
nssv14347234 | Remapped | Perfect | NC_000009.11:g.(39 102622_39103280)_( 39124455_39125113) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 39,102,951 (-329, +329) | 39,124,784 (-329, +329) |
nssv14347235 | Remapped | Perfect | NC_000009.11:g.(39 102622_39103280)_( 39124455_39125113) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 39,102,951 (-329, +329) | 39,124,784 (-329, +329) |