nsv470356
- 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:238,922
- 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: 779 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 779 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 294 SVs from 12 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 |
---|---|---|---|---|---|---|---|---|---|
nsv470356 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 88,473,897 | 88,712,818 |
nsv470356 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 87,728,898 | 87,967,819 |
nsv470356 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 87,615,554 | 87,854,475 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv547044 | copy number gain | HGDP00605 | SNP array | SNP genotyping analysis | 3 | 6 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv547044 | Remapped | Perfect | NC_000023.11:g.(?_ 88473897)_(8871281 8_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 88,473,897 | 88,712,818 |
nssv547044 | Remapped | Perfect | NC_000023.10:g.(?_ 87728898)_(8796781 9_?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 87,728,898 | 87,967,819 |
nssv547044 | Submitted genomic | NC_000023.9:g.(?_8 7615554)_(87854475 _?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 87,615,554 | 87,854,475 |