nsv542059
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:514,369
- Publication(s):Cooper et al. 2011
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: 1914 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1914 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 616 SVs from 25 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 |
---|---|---|---|---|---|---|---|---|---|
nsv542059 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 42,183,818 | 42,698,186 |
nsv542059 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 42,653,021 | 43,167,389 |
nsv542059 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 41,722,771 | 42,237,139 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv1166609 | copy number loss | 9886644 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1166609 | Remapped | Perfect | NC_000014.9:g.(?_4 2183818)_(42698186 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 42,183,818 | 42,698,186 |
nssv1166609 | Remapped | Perfect | NC_000014.8:g.(?_4 2653021)_(43167389 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 42,653,021 | 43,167,389 |
nssv1166609 | Submitted genomic | NC_000014.7:g.(?_4 1722771)_(42237139 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 41,722,771 | 42,237,139 |