nsv3118391
- 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:55,842
- 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: 591 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 591 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3118391 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 4,374,498 | 4,430,339 |
| nsv3118391 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 4,232,020 | 4,287,861 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14109470 | copy number loss | CSMD1_Pt1 | Oligo aCGH | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14109470 | Remapped | Perfect | NC_000008.11:g.(?_ 4374498)_(4430339_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,374,498 | 4,430,339 |
| nssv14109470 | Submitted genomic | NC_000008.10:g.(?_ 4232020)_(4287861_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,232,020 | 4,287,861 |