nsv948495
- Organism: Homo sapiens
- Study:nstd85 (vanSilfhout et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:254,002
- Publication(s):Vulto-van Silfhout et al. 2013
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: 935 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 935 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 42 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv948495 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 29,937,838 | 30,191,839 |
| nsv948495 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 30,090,771 | 30,344,772 |
| nsv948495 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 29,982,038 | 30,236,039 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2767022 | copy number loss | SNP array | SNP genotyping analysis | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2767022 | Remapped | Perfect | NC_000012.12:g.(?_ 29937838)_(3019183 9_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 29,937,838 | 30,191,839 |
| nssv2767022 | Remapped | Perfect | NC_000012.11:g.(?_ 30090771)_(3034477 2_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 30,090,771 | 30,344,772 |
| nssv2767022 | Submitted genomic | NC_000012.9:g.(?_2 9982038)_(30236039 _?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 29,982,038 | 30,236,039 |