nsv5592184
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:76
- Publication(s):Ebert et al. 2021
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: 162 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5592184 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 38,490,650 | 38,490,725 | ||
nsv5592184 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 37,119,293 | 37,119,368 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17116640 | deletion | SAMN00001694 | Sequencing | Sequence alignment | 8,610 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17116640 | Submitted genomic | NC_000020.11:g.384 90650_38490725delG | GRCh38 (hg38) | NC_000020.11 | Chr20 | 38,490,650 | 38,490,725 | ||
nssv17116640 | Remapped | Perfect | NC_000020.10:g.371 19293_37119368delG | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 37,119,293 | 37,119,368 |