nsv526673
- 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:12,183
- 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: 495 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 495 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv526673 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 44,291,319 | 44,303,501 |
| nsv526673 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 45,711,202 | 45,723,384 |
| nsv526673 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000021.7 | Chr21 | 44,535,630 | 44,547,812 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv703005 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv703005 | Remapped | Perfect | NC_000021.9:g.(?_4 4291319)_(44303501 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 44,291,319 | 44,303,501 |
| nssv703005 | Remapped | Perfect | NC_000021.8:g.(?_4 5711202)_(45723384 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 45,711,202 | 45,723,384 |
| nssv703005 | Submitted genomic | NC_000021.7:g.(?_4 4535630)_(44547812 _?)del | NCBI35 (hg17) | NC_000021.7 | Chr21 | 44,535,630 | 44,547,812 |