nsv3565983
- Organism: Homo sapiens
- Study:nstd165 (Bhaskaran et al. 2019)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,502
- Publication(s):Bhaskaran et al. 2019
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: 200 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 200 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3565983 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 32,356,428 | 32,357,929 |
| nsv3565983 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 32,930,565 | 32,932,066 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14814891 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14814891 | Remapped | Perfect | NC_000013.11:g.323 56428_32357929del1 502 | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 32,356,428 | 32,357,929 |
| nssv14814891 | Submitted genomic | NC_000013.10:g.329 30565_32932066del1 502 | GRCh37 (hg19) | NC_000013.10 | Chr13 | 32,930,565 | 32,932,066 |