nsv3340253
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,500
- Publication(s):Audano 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: 1548 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1551 SVs from 86 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3340253 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nsv3340253 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14572938 | duplication | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14573375 | duplication | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14573498 | duplication | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14576702 | duplication | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14576729 | duplication | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14580752 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14581230 | duplication | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14581421 | duplication | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14583158 | duplication | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14583654 | duplication | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14587986 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14589264 | duplication | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14591105 | duplication | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14572938 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14573375 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14573498 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14576702 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14576729 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14580752 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14581230 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14581421 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14583158 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14583654 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14587986 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14589264 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14591105 | Submitted genomic | NC_000016.10:g.(32 781501_32781701)_( 32839000_32839200) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,781,601 (-100, +100) | 32,839,100 (-100, +100) | ||
| nssv14572938 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
| nssv14573375 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
| nssv14573498 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
| nssv14576702 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
| nssv14576729 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
| nssv14580752 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
| nssv14581230 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
| nssv14581421 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
| nssv14583158 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
| nssv14583654 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
| nssv14587986 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
| nssv14589264 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |
| nssv14591105 | Remapped | Perfect | NC_000016.9:g.(327 92822_32793022)_(3 2850321_32850521)d upNC_000016.9:g.(3 2792822_32793022)_ (32850321_32850521 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,792,922 (-100, +100) | 32,850,421 (-100, +100) |