nsv594311
- 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:7,850
- 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: 250 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv594311 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 61,074,287 | 61,082,136 |
| nsv594311 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 61,940,005 | 61,947,854 |
| nsv594311 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 61,622,600 | 61,630,449 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv999467 | copy number gain | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv999467 | Remapped | Perfect | NC_000004.12:g.(?_ 61074287)_(6108213 6_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 61,074,287 | 61,082,136 |
| nssv999467 | Remapped | Perfect | NC_000004.11:g.(?_ 61940005)_(6194785 4_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 61,940,005 | 61,947,854 |
| nssv999467 | Submitted genomic | NC_000004.10:g.(?_ 61622600)_(6163044 9_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 61,622,600 | 61,630,449 |