nsv523001
- 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:249,452
- 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: 1389 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1389 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 59 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv523001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,381,570 | 189,631,021 |
| nsv523001 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 189,350,700 | 189,600,151 |
| nsv523001 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 186,082,357 | 186,331,808 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv698673 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv698673 | Remapped | Perfect | NC_000001.11:g.(?_ 189381570)_(189631 021_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,381,570 | 189,631,021 |
| nssv698673 | Remapped | Perfect | NC_000001.10:g.(?_ 189350700)_(189600 151_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,350,700 | 189,600,151 |
| nssv698673 | Submitted genomic | NC_000001.8:g.(?_1 86082357)_(1863318 08_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 186,082,357 | 186,331,808 |