nsv3118367
- Organism: Homo sapiens
- Study:nstd149 (Gambin et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:581,280
- Publication(s):Gambin et al. 2017
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: 2629 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2629 SVs from 91 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3118367 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 2,789,427 | 3,370,706 |
nsv3118367 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 2,646,965 | 3,228,228 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv14109471 | copy number loss | CSMD1_Pt2 | Oligo aCGH | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14109471 | Remapped | Good | NC_000008.11:g.278 9427_3370706del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 2,789,427 | 3,370,706 |
nssv14109471 | Submitted genomic | NC_000008.10:g.264 6965_3228228del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,646,965 | 3,228,228 |