nsv442299
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:58,624
- Publication(s):McCarroll et al. 2008
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 78 studies. See in: genome view
Overlapping variant regions from other studies: 545 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv442299 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 131,415,577 | 131,474,200 |
| nsv442299 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 131,900,122 | 131,958,745 |
| nsv442299 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 130,425,002 | 130,483,625 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1659602 | copy number gain | NA18537 | SNP array | Probe signal intensity | 3 | 164 |
| nssv1659603 | copy number loss | NA18522 | SNP array | Probe signal intensity | 1 | 172 |
| nssv1659604 | copy number loss | NA19204 | SNP array | Probe signal intensity | 1 | 200 |
| nssv1659605 | copy number loss | NA19205 | SNP array | Probe signal intensity | 1 | 180 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1659602 | Remapped | Perfect | NC_000012.12:g.(?_ 131415577)_(131474 200_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,415,577 | 131,474,200 |
| nssv1659603 | Remapped | Perfect | NC_000012.12:g.(?_ 131415577)_(131474 200_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,415,577 | 131,474,200 |
| nssv1659604 | Remapped | Perfect | NC_000012.12:g.(?_ 131415577)_(131474 200_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,415,577 | 131,474,200 |
| nssv1659605 | Remapped | Perfect | NC_000012.12:g.(?_ 131415577)_(131474 200_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,415,577 | 131,474,200 |
| nssv1659602 | Remapped | Perfect | NC_000012.11:g.(?_ 131900122)_(131958 745_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,900,122 | 131,958,745 |
| nssv1659603 | Remapped | Perfect | NC_000012.11:g.(?_ 131900122)_(131958 745_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,900,122 | 131,958,745 |
| nssv1659604 | Remapped | Perfect | NC_000012.11:g.(?_ 131900122)_(131958 745_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,900,122 | 131,958,745 |
| nssv1659605 | Remapped | Perfect | NC_000012.11:g.(?_ 131900122)_(131958 745_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,900,122 | 131,958,745 |
| nssv1659602 | Submitted genomic | NC_000012.9:g.(?_1 30425002)_(1304836 25_?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,425,002 | 130,483,625 | ||
| nssv1659603 | Submitted genomic | NC_000012.9:g.(?_1 30425002)_(1304836 25_?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,425,002 | 130,483,625 | ||
| nssv1659604 | Submitted genomic | NC_000012.9:g.(?_1 30425002)_(1304836 25_?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,425,002 | 130,483,625 | ||
| nssv1659605 | Submitted genomic | NC_000012.9:g.(?_1 30425002)_(1304836 25_?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,425,002 | 130,483,625 |