nsv514707
- Organism: Homo sapiens
- Study:nstd46 (Campbell et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,649
- Publication(s):Campbell et al. 2011
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: 508 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 508 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 248 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv514707 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nsv514707 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nsv514707 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2799370 | copy number loss | NA12248 | Oligo aCGH | Probe signal intensity | 1 | 494 |
| nssv2800137 | copy number loss | NA12751 | Oligo aCGH | Probe signal intensity | 1 | 450 |
| nssv2800429 | copy number loss | NA06995 | Oligo aCGH | Probe signal intensity | 1 | 487 |
| nssv2801095 | copy number loss | NA12775 | Oligo aCGH | Probe signal intensity | 1 | 455 |
| nssv2801467 | copy number loss | NA12875 | Oligo aCGH | Probe signal intensity | 1 | 462 |
| nssv2801620 | copy number loss | NA11830 | Oligo aCGH | Probe signal intensity | 1 | 465 |
| nssv2802357 | copy number loss | NA12827 | Oligo aCGH | Probe signal intensity | 1 | 463 |
| nssv2802410 | copy number loss | NA12348 | Oligo aCGH | Probe signal intensity | 1 | 456 |
| nssv2803487 | copy number loss | NA10856 | Oligo aCGH | Probe signal intensity | 0 | 482 |
| nssv2804102 | copy number loss | NA12716 | Oligo aCGH | Probe signal intensity | 1 | 452 |
| nssv2804392 | copy number loss | NA12815 | Oligo aCGH | Probe signal intensity | 1 | 447 |
| nssv2804642 | copy number loss | NA11829 | Oligo aCGH | Probe signal intensity | 1 | 476 |
| nssv2805387 | copy number loss | NA12239 | Oligo aCGH | Probe signal intensity | 1 | 445 |
| nssv2805907 | copy number loss | NA10838 | Oligo aCGH | Probe signal intensity | 1 | 488 |
| nssv2806005 | copy number loss | NA12273 | Oligo aCGH | Probe signal intensity | 1 | 466 |
| nssv2806226 | copy number loss | NA12740 | Oligo aCGH | Probe signal intensity | 1 | 446 |
| nssv2806862 | copy number loss | NA07435 | Oligo aCGH | Probe signal intensity | 1 | 462 |
| nssv2807209 | copy number loss | NA12763 | Oligo aCGH | Probe signal intensity | 1 | 471 |
| nssv2807439 | copy number loss | NA07000 | Oligo aCGH | Probe signal intensity | 1 | 455 |
| nssv2808265 | copy number loss | NA07037 | Oligo aCGH | Probe signal intensity | 1 | 461 |
| nssv2808374 | copy number loss | NA11893 | Oligo aCGH | Probe signal intensity | 1 | 474 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2799370 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2800137 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2800429 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2801095 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2801467 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2801620 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2802357 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2802410 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2803487 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2804102 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2804392 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2804642 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2805387 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2805907 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2806005 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2806226 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2806862 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2807209 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2807439 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2808265 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2808374 | Remapped | Perfect | NC_000013.11:g.(?_ 63650826)_(6366047 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,826 | 63,660,474 |
| nssv2799370 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2800137 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2800429 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2801095 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2801467 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2801620 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2802357 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2802410 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2803487 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2804102 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2804392 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2804642 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2805387 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2805907 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2806005 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2806226 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2806862 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2807209 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2807439 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2808265 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2808374 | Remapped | Perfect | NC_000013.10:g.(?_ 64224959)_(6423460 7_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,959 | 64,234,607 |
| nssv2799370 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2800137 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2800429 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2801095 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2801467 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2801620 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2802357 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2802410 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2803487 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2804102 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2804392 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2804642 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2805387 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2805907 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2806005 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2806226 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2806862 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2807209 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2807439 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2808265 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 | ||
| nssv2808374 | Submitted genomic | NC_000013.9:g.(?_6 3122960)_(63132608 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,960 | 63,132,608 |