nsv470360
- 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:133,853
- 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: 647 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 643 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 249 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470360 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 116,953,387 | 117,087,239 |
| nsv470360 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 116,087,355 | 116,221,207 |
| nsv470360 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 115,971,383 | 116,105,235 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv547048 | copy number loss | HGDP00615 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv547048 | Remapped | Perfect | NC_000023.11:g.(?_ 116953387)_(117087 239_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 116,953,387 | 117,087,239 |
| nssv547048 | Remapped | Perfect | NC_000023.10:g.(?_ 116087355)_(116221 207_?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 116,087,355 | 116,221,207 |
| nssv547048 | Submitted genomic | NC_000023.9:g.(?_1 15971383)_(1161052 35_?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 115,971,383 | 116,105,235 |