nsv594412
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:643,178
- Publication(s):Cooper 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: 2466 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 2466 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 717 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv594412 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 63,588,998 | 64,232,175 |
| nsv594412 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 64,454,716 | 65,097,893 |
| nsv594412 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 64,137,311 | 64,780,488 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1152694 | copy number loss | HGDP01062 | SNP array | SNP genotyping analysis | nssv1152019, nssv1151498, nssv1175699 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1152694 | Remapped | Perfect | NC_000004.12:g.(?_ 63588998)_(6423217 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 63,588,998 | 64,232,175 |
| nssv1152694 | Remapped | Perfect | NC_000004.11:g.(?_ 64454716)_(6509789 3_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 64,454,716 | 65,097,893 |
| nssv1152694 | Submitted genomic | NC_000004.10:g.(?_ 64137311)_(6478048 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 64,137,311 | 64,780,488 |