nsv470952
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:346,654
- Description:Single-copy duplication
- Publication(s):Jakobsson 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: 1261 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1261 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 391 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470952 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 65,025,888 | 65,372,541 |
| nsv470952 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 66,785,646 | 67,132,299 |
| nsv470952 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 66,455,652 | 66,802,305 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv544944 | copy number gain | HGDP00076 | SNP array | SNP genotyping analysis | 3 | nssv545233, nssv546774, nssv546205 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv544944 | Remapped | Perfect | NC_000010.11:g.(?_ 65025888)_(6537254 1_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 65,025,888 | 65,372,541 |
| nssv544944 | Remapped | Perfect | NC_000010.10:g.(?_ 66785646)_(6713229 9_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 66,785,646 | 67,132,299 |
| nssv544944 | Submitted genomic | NC_000010.9:g.(?_6 6455652)_(66802305 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 66,455,652 | 66,802,305 |