nsv520230
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:308,585
- Publication(s):Shaikh et al. 2009
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: 1448 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 1449 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv520230 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,592,958 | 31,901,542 |
| nsv520230 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 31,611,075 | 31,919,659 |
| nsv520230 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000023.8 | ChrX | 31,370,732 | 31,679,316 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv697295 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv697295 | Remapped | Perfect | NC_000023.11:g.(?_ 31592958)_(3190154 2_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,592,958 | 31,901,542 |
| nssv697295 | Remapped | Perfect | NC_000023.10:g.(?_ 31611075)_(3191965 9_?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 31,611,075 | 31,919,659 |
| nssv697295 | Submitted genomic | NC_000023.8:g.(?_3 1370732)_(31679316 _?)del | NCBI35 (hg17) | NC_000023.8 | ChrX | 31,370,732 | 31,679,316 |