nsv948355
- 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:235,032
- 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: 863 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 863 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 51 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv948355 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 14,160,338 | 14,395,369 |
| nsv948355 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 14,160,447 | 14,395,478 |
| nsv948355 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 14,213,447 | 14,448,478 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2766865 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2766865 | Remapped | Perfect | NC_000005.10:g.(?_ 14160338)_(1439536 9_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 14,160,338 | 14,395,369 |
| nssv2766865 | Remapped | Perfect | NC_000005.9:g.(?_1 4160447)_(14395478 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 14,160,447 | 14,395,478 |
| nssv2766865 | Submitted genomic | NC_000005.8:g.(?_1 4213447)_(14448478 _?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 14,213,447 | 14,448,478 |