nsv470363
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:148,383
- 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: 646 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 646 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470363 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 127,212,583 | 127,360,965 |
| nsv470363 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 126,346,566 | 126,494,948 |
| nsv470363 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 126,174,247 | 126,322,629 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv547058 | copy number gain | HGDP00575 | SNP array | SNP genotyping analysis | 3 | nssv545638, nssv547039, nssv547329 |
| nssv547059 | copy number gain | HGDP00583 | SNP array | SNP genotyping analysis | 3 | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv547058 | Remapped | Perfect | NC_000023.11:g.(?_ 127212583)_(127360 965_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 127,212,583 | 127,360,965 |
| nssv547059 | Remapped | Perfect | NC_000023.11:g.(?_ 127212583)_(127360 965_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 127,212,583 | 127,360,965 |
| nssv547058 | Remapped | Perfect | NC_000023.10:g.(?_ 126346566)_(126494 948_?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 126,346,566 | 126,494,948 |
| nssv547059 | Remapped | Perfect | NC_000023.10:g.(?_ 126346566)_(126494 948_?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 126,346,566 | 126,494,948 |
| nssv547058 | Submitted genomic | NC_000023.9:g.(?_1 26174247)_(1263226 29_?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 126,174,247 | 126,322,629 | ||
| nssv547059 | Submitted genomic | NC_000023.9:g.(?_1 26174247)_(1263226 29_?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 126,174,247 | 126,322,629 |