nsv949629
- 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:184,584
- 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: 614 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 614 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 5 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 |
---|---|---|---|---|---|---|---|---|---|
nsv949629 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 133,072,806 | 133,257,389 |
nsv949629 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 133,830,379 | 134,014,961 |
nsv949629 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 133,664,111 | 133,848,693 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
nssv2768366 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv2768366 | Remapped | Good | NC_000002.12:g.(?_ 133072806)_(133257 389_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 133,072,806 | 133,257,389 |
nssv2768366 | Remapped | Perfect | NC_000002.11:g.(?_ 133830379)_(134014 961_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 133,830,379 | 134,014,961 |
nssv2768366 | Submitted genomic | NC_000002.9:g.(?_1 33664111)_(1338486 93_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 133,664,111 | 133,848,693 |