nsv5576383
- 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:1,479
- 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: 103 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5576383 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 133,894,736 | 133,896,214 | ||
nsv5576383 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 134,215,874 | 134,217,352 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17153792 | deletion | SAMN00249890 | Sequencing | Sequence alignment | 1,169 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17153792 | Submitted genomic | NC_000006.12:g.133 894736_133896214de lA | GRCh38 (hg38) | NC_000006.12 | Chr6 | 133,894,736 | 133,896,214 | ||
nssv17153792 | Remapped | Perfect | NC_000006.11:g.134 215874_134217352de lA | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 134,215,874 | 134,217,352 |