nsv1191250
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:345,207
- Publication(s):Polyak et al. 2015
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: 3646 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 3759 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 862 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1191250 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 22,097,310 | 22,442,516 |
| nsv1191250 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 22,565,587 | 22,911,508 |
| nsv1191250 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 21,635,427 | 21,981,348 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7459744 | copy number loss | 15234 | Oligo aCGH | Probe signal intensity | nssv7468758 |
| nssv7460880 | copy number loss | 18995 | Oligo aCGH | Probe signal intensity | nssv7465813, nssv7470101 |
| nssv7465641 | copy number loss | 31958 | Oligo aCGH | Probe signal intensity | nssv7460405, nssv7475218 |
| nssv7468256 | copy number loss | 19737 | Oligo aCGH | Probe signal intensity | nssv7473756, nssv7473480 |
| nssv7470876 | copy number loss | 29259 | Oligo aCGH | Probe signal intensity | nssv7460122, nssv7458949 |
| nssv7472286 | copy number loss | 19561 | Oligo aCGH | Probe signal intensity | nssv7472119, nssv7470818, nssv7475638 |
| nssv7473621 | copy number loss | 18917 | Oligo aCGH | Probe signal intensity | nssv7459587, nssv7466871 |
| nssv7475744 | copy number gain | 30557 | Oligo aCGH | Probe signal intensity | nssv7461693 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7459744 | Remapped | Good | NC_000014.9:g.(?_2 2097310)_(22442516 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,097,310 | 22,442,516 |
| nssv7460880 | Remapped | Good | NC_000014.9:g.(?_2 2097310)_(22442516 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,097,310 | 22,442,516 |
| nssv7465641 | Remapped | Good | NC_000014.9:g.(?_2 2097310)_(22442516 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,097,310 | 22,442,516 |
| nssv7468256 | Remapped | Good | NC_000014.9:g.(?_2 2097310)_(22442516 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,097,310 | 22,442,516 |
| nssv7470876 | Remapped | Good | NC_000014.9:g.(?_2 2097310)_(22442516 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,097,310 | 22,442,516 |
| nssv7472286 | Remapped | Good | NC_000014.9:g.(?_2 2097310)_(22442516 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,097,310 | 22,442,516 |
| nssv7473621 | Remapped | Good | NC_000014.9:g.(?_2 2097310)_(22442516 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,097,310 | 22,442,516 |
| nssv7475744 | Remapped | Good | NC_000014.9:g.(?_2 2097310)_(22442516 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,097,310 | 22,442,516 |
| nssv7459744 | Remapped | Perfect | NC_000014.8:g.(?_2 2565587)_(22911508 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 22,565,587 | 22,911,508 |
| nssv7460880 | Remapped | Perfect | NC_000014.8:g.(?_2 2565587)_(22911508 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 22,565,587 | 22,911,508 |
| nssv7465641 | Remapped | Perfect | NC_000014.8:g.(?_2 2565587)_(22911508 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 22,565,587 | 22,911,508 |
| nssv7468256 | Remapped | Perfect | NC_000014.8:g.(?_2 2565587)_(22911508 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 22,565,587 | 22,911,508 |
| nssv7470876 | Remapped | Perfect | NC_000014.8:g.(?_2 2565587)_(22911508 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 22,565,587 | 22,911,508 |
| nssv7472286 | Remapped | Perfect | NC_000014.8:g.(?_2 2565587)_(22911508 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 22,565,587 | 22,911,508 |
| nssv7473621 | Remapped | Perfect | NC_000014.8:g.(?_2 2565587)_(22911508 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 22,565,587 | 22,911,508 |
| nssv7475744 | Remapped | Perfect | NC_000014.8:g.(?_2 2565587)_(22911508 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 22,565,587 | 22,911,508 |
| nssv7459744 | Submitted genomic | NC_000014.7:g.(?_2 1635427)_(21981348 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 21,635,427 | 21,981,348 | ||
| nssv7460880 | Submitted genomic | NC_000014.7:g.(?_2 1635427)_(21981348 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 21,635,427 | 21,981,348 | ||
| nssv7465641 | Submitted genomic | NC_000014.7:g.(?_2 1635427)_(21981348 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 21,635,427 | 21,981,348 | ||
| nssv7468256 | Submitted genomic | NC_000014.7:g.(?_2 1635427)_(21981348 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 21,635,427 | 21,981,348 | ||
| nssv7470876 | Submitted genomic | NC_000014.7:g.(?_2 1635427)_(21981348 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 21,635,427 | 21,981,348 | ||
| nssv7472286 | Submitted genomic | NC_000014.7:g.(?_2 1635427)_(21981348 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 21,635,427 | 21,981,348 | ||
| nssv7473621 | Submitted genomic | NC_000014.7:g.(?_2 1635427)_(21981348 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 21,635,427 | 21,981,348 | ||
| nssv7475744 | Submitted genomic | NC_000014.7:g.(?_2 1635427)_(21981348 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 21,635,427 | 21,981,348 |