nsv527488
- 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:498,556
- 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: 4199 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 4199 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 28 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv527488 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 37,539,652 | 38,038,207 |
| nsv527488 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 37,933,454 | 38,432,009 |
| nsv527488 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 36,219,721 | 36,718,276 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv703936 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv703936 | Remapped | Perfect | NC_000012.12:g.(?_ 37539652)_(3803820 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,539,652 | 38,038,207 |
| nssv703936 | Remapped | Perfect | NC_000012.11:g.(?_ 37933454)_(3843200 9_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,933,454 | 38,432,009 |
| nssv703936 | Submitted genomic | NC_000012.9:g.(?_3 6219721)_(36718276 _?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 36,219,721 | 36,718,276 |