nsv3118376
- 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:209,296
- 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: 463 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 463 SVs from 53 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3118376 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 49,603,241 | 49,812,536 |
| nsv3118376 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 50,068,913 | 50,278,208 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14109482 | copy number loss | AGBL4_Pt4 | Oligo aCGH | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14109482 | Remapped | Perfect | NC_000001.11:g.(?_ 49603241)_(4981253 6_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 49,603,241 | 49,812,536 |
| nssv14109482 | Submitted genomic | NC_000001.10:g.(?_ 50068913)_(5027820 8_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 50,068,913 | 50,278,208 |