nsv524850
- 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:297,947
- 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: 921 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 921 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 73 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv524850 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 126,549,748 | 126,847,694 |
| nsv524850 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 127,470,903 | 127,768,849 |
| nsv524850 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 127,828,508 | 128,126,454 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv700852 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv700852 | Remapped | Perfect | NC_000004.12:g.(?_ 126549748)_(126847 694_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 126,549,748 | 126,847,694 |
| nssv700852 | Remapped | Perfect | NC_000004.11:g.(?_ 127470903)_(127768 849_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 127,470,903 | 127,768,849 |
| nssv700852 | Submitted genomic | NC_000004.9:g.(?_1 27828508)_(1281264 54_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 127,828,508 | 128,126,454 |