nsv470727
- 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:126,936
- 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: 357 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470727 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 85,868,139 | 85,995,074 |
| nsv470727 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 85,917,289 | 86,044,224 |
| nsv470727 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 85,999,979 | 86,126,914 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv547579 | copy number gain | HGDP00356 | SNP array | SNP genotyping analysis | 3 | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv547579 | Remapped | Perfect | NC_000003.12:g.(?_ 85868139)_(8599507 4_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 85,868,139 | 85,995,074 |
| nssv547579 | Remapped | Perfect | NC_000003.11:g.(?_ 85917289)_(8604422 4_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 85,917,289 | 86,044,224 |
| nssv547579 | Submitted genomic | NC_000003.10:g.(?_ 85999979)_(8612691 4_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 85,999,979 | 86,126,914 |