nsv3229664
- 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:36,461
- 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: 545 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 545 SVs from 85 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3229664 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 21,528,064 (-329, +329) | 21,564,524 (-329, +329) | ||
nsv3229664 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 21,539,385 (-329, +329) | 21,575,845 (-329, +329) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14372778 | duplication | SAMN00006581 | Sequencing | Sequence alignment | 4 | 41,185 |
nssv14373250 | duplication | HG00514 | Sequencing | Sequence alignment | 4 | 39,861 |
nssv14374171 | duplication | HG00512 | Sequencing | Sequence alignment | 4 | 13,827 |
nssv14377381 | duplication | SAMN00001694 | Sequencing | Sequence alignment | 4 | 16,419 |
nssv14378535 | duplication | SAMN00001696 | Sequencing | Sequence alignment | 4 | 45,591 |
nssv14380171 | duplication | SAMN00006466 | Sequencing | Sequence alignment | 4 | 14,137 |
nssv14386724 | duplication | SAMN00006580 | Sequencing | Sequence alignment | 4 | 14,212 |
nssv14387791 | duplication | SAMN00001695 | Sequencing | Sequence alignment | 4 | 15,732 |
nssv14389113 | duplication | SAMN00006579 | Sequencing | Sequence alignment | 4 | 13,953 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14372778 | Submitted genomic | NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 21,528,064 (-329, +329) | 21,564,524 (-329, +329) | ||
nssv14373250 | Submitted genomic | NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 21,528,064 (-329, +329) | 21,564,524 (-329, +329) | ||
nssv14374171 | Submitted genomic | NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 21,528,064 (-329, +329) | 21,564,524 (-329, +329) | ||
nssv14377381 | Submitted genomic | NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 21,528,064 (-329, +329) | 21,564,524 (-329, +329) | ||
nssv14378535 | Submitted genomic | NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 21,528,064 (-329, +329) | 21,564,524 (-329, +329) | ||
nssv14380171 | Submitted genomic | NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 21,528,064 (-329, +329) | 21,564,524 (-329, +329) | ||
nssv14386724 | Submitted genomic | NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 21,528,064 (-329, +329) | 21,564,524 (-329, +329) | ||
nssv14387791 | Submitted genomic | NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 21,528,064 (-329, +329) | 21,564,524 (-329, +329) | ||
nssv14389113 | Submitted genomic | NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 21,528,064 (-329, +329) | 21,564,524 (-329, +329) | ||
nssv14372778 | Remapped | Perfect | NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 21,539,385 (-329, +329) | 21,575,845 (-329, +329) |
nssv14373250 | Remapped | Perfect | NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 21,539,385 (-329, +329) | 21,575,845 (-329, +329) |
nssv14374171 | Remapped | Perfect | NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 21,539,385 (-329, +329) | 21,575,845 (-329, +329) |
nssv14377381 | Remapped | Perfect | NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 21,539,385 (-329, +329) | 21,575,845 (-329, +329) |
nssv14378535 | Remapped | Perfect | NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 21,539,385 (-329, +329) | 21,575,845 (-329, +329) |
nssv14380171 | Remapped | Perfect | NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 21,539,385 (-329, +329) | 21,575,845 (-329, +329) |
nssv14386724 | Remapped | Perfect | NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 21,539,385 (-329, +329) | 21,575,845 (-329, +329) |
nssv14387791 | Remapped | Perfect | NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 21,539,385 (-329, +329) | 21,575,845 (-329, +329) |
nssv14389113 | Remapped | Perfect | NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 21,539,385 (-329, +329) | 21,575,845 (-329, +329) |