nsv3118371
- 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:558,788
- 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: 3484 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 3484 SVs from 109 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3118371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 3,975,308 | 4,534,095 |
| nsv3118371 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 3,832,830 | 4,391,617 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14109473 | copy number loss | CSMD1_Pt4 | Oligo aCGH | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14109473 | Remapped | Perfect | NC_000008.11:g.397 5308_4534095del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 3,975,308 | 4,534,095 |
| nssv14109473 | Submitted genomic | NC_000008.10:g.383 2830_4391617del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 3,832,830 | 4,391,617 |