nsv557279
- 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:97,963
- 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: 1679 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 1679 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 594 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv557279 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 7,825,127 | 7,923,089 |
| nsv557279 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 7,977,723 | 8,075,685 |
| nsv557279 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 7,868,990 | 7,966,952 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1175761 | copy number gain | HGDP01295 | SNP array | SNP genotyping analysis | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1175761 | Remapped | Perfect | NC_000012.12:g.(?_ 7825127)_(7923089_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,825,127 | 7,923,089 |
| nssv1175761 | Remapped | Perfect | NC_000012.11:g.(?_ 7977723)_(8075685_ ?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 7,977,723 | 8,075,685 |
| nssv1175761 | Submitted genomic | NC_000012.10:g.(?_ 7868990)_(7966952_ ?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 7,868,990 | 7,966,952 |