nsv524531
- 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:234,299
- 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: 1021 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1021 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv524531 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 101,842,610 | 102,076,908 |
| nsv524531 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 101,178,314 | 101,412,612 |
| nsv524531 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 101,206,213 | 101,440,511 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv700481 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv700481 | Remapped | Perfect | NC_000005.10:g.(?_ 101842610)_(102076 908_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 101,842,610 | 102,076,908 |
| nssv700481 | Remapped | Perfect | NC_000005.9:g.(?_1 01178314)_(1014126 12_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 101,178,314 | 101,412,612 |
| nssv700481 | Submitted genomic | NC_000005.8:g.(?_1 01206213)_(1014405 11_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 101,206,213 | 101,440,511 |