nsv3118365
- 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:286,621
- 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: 607 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 607 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3118365 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 48,919,274 | 49,205,894 |
| nsv3118365 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 49,384,946 | 49,671,566 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14109480 | copy number loss | AGBL4_Pt2 | Oligo aCGH | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14109480 | Remapped | Perfect | NC_000001.11:g.489 19274_49205894del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 48,919,274 | 49,205,894 |
| nssv14109480 | Submitted genomic | NC_000001.10:g.493 84946_49671566del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 49,384,946 | 49,671,566 |