nsv514759
- Organism: Homo sapiens
- Study:nstd46 (Campbell et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,561
- 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: 256 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv514759 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 87,933,687 | 87,948,247 |
| nsv514759 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 88,400,031 | 88,414,591 |
| nsv514759 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 87,469,784 | 87,484,344 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2809352 | copy number loss | NA12716 | Oligo aCGH | Probe signal intensity | 1 | 452 |
| nssv2809421 | copy number gain | NA12341 | Oligo aCGH | Probe signal intensity | 3 | 448 |
| nssv2809750 | copy number gain | NA12236 | Oligo aCGH | Probe signal intensity | 4 | 442 |
| nssv2813056 | copy number gain | NA12248 | Oligo aCGH | Probe signal intensity | 3 | 494 |
| nssv2813592 | copy number loss | NA11840 | Oligo aCGH | Probe signal intensity | 1 | 450 |
| nssv2814004 | copy number gain | NA12878 | Oligo aCGH | Probe signal intensity | 3 | 501 |
| nssv2817045 | copy number gain | NA06984 | Oligo aCGH | Probe signal intensity | 3 | 476 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2809352 | Remapped | Perfect | NC_000014.9:g.(?_8 7933687)_(87948247 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 87,933,687 | 87,948,247 |
| nssv2809421 | Remapped | Perfect | NC_000014.9:g.(?_8 7933687)_(87948247 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 87,933,687 | 87,948,247 |
| nssv2809750 | Remapped | Perfect | NC_000014.9:g.(?_8 7933687)_(87948247 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 87,933,687 | 87,948,247 |
| nssv2813056 | Remapped | Perfect | NC_000014.9:g.(?_8 7933687)_(87948247 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 87,933,687 | 87,948,247 |
| nssv2813592 | Remapped | Perfect | NC_000014.9:g.(?_8 7933687)_(87948247 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 87,933,687 | 87,948,247 |
| nssv2814004 | Remapped | Perfect | NC_000014.9:g.(?_8 7933687)_(87948247 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 87,933,687 | 87,948,247 |
| nssv2817045 | Remapped | Perfect | NC_000014.9:g.(?_8 7933687)_(87948247 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 87,933,687 | 87,948,247 |
| nssv2809352 | Remapped | Perfect | NC_000014.8:g.(?_8 8400031)_(88414591 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 88,400,031 | 88,414,591 |
| nssv2809421 | Remapped | Perfect | NC_000014.8:g.(?_8 8400031)_(88414591 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 88,400,031 | 88,414,591 |
| nssv2809750 | Remapped | Perfect | NC_000014.8:g.(?_8 8400031)_(88414591 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 88,400,031 | 88,414,591 |
| nssv2813056 | Remapped | Perfect | NC_000014.8:g.(?_8 8400031)_(88414591 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 88,400,031 | 88,414,591 |
| nssv2813592 | Remapped | Perfect | NC_000014.8:g.(?_8 8400031)_(88414591 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 88,400,031 | 88,414,591 |
| nssv2814004 | Remapped | Perfect | NC_000014.8:g.(?_8 8400031)_(88414591 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 88,400,031 | 88,414,591 |
| nssv2817045 | Remapped | Perfect | NC_000014.8:g.(?_8 8400031)_(88414591 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 88,400,031 | 88,414,591 |
| nssv2809352 | Submitted genomic | NC_000014.7:g.(?_8 7469784)_(87484344 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 87,469,784 | 87,484,344 | ||
| nssv2809421 | Submitted genomic | NC_000014.7:g.(?_8 7469784)_(87484344 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 87,469,784 | 87,484,344 | ||
| nssv2809750 | Submitted genomic | NC_000014.7:g.(?_8 7469784)_(87484344 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 87,469,784 | 87,484,344 | ||
| nssv2813056 | Submitted genomic | NC_000014.7:g.(?_8 7469784)_(87484344 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 87,469,784 | 87,484,344 | ||
| nssv2813592 | Submitted genomic | NC_000014.7:g.(?_8 7469784)_(87484344 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 87,469,784 | 87,484,344 | ||
| nssv2814004 | Submitted genomic | NC_000014.7:g.(?_8 7469784)_(87484344 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 87,469,784 | 87,484,344 | ||
| nssv2817045 | Submitted genomic | NC_000014.7:g.(?_8 7469784)_(87484344 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 87,469,784 | 87,484,344 |