nsv3945601
- Organism: Homo sapiens
- Study:nstd167 (Wenger et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,467
- Publication(s):Wenger 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: 92 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 15 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3945601 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 165,311,177 | 165,318,643 |
nsv3945601 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 165,724,666 | 165,732,132 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv15198492 | deletion | SAMN03283347 | Sequencing | de novo and local sequence assembly | Heterozygous | 30,634 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15198492 | Remapped | Perfect | NC_000006.12:g.165 311177_165318643de l | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 165,311,177 | 165,318,643 |
nssv15198492 | Submitted genomic | NC_000006.11:g.165 724666_165732132de l | GRCh37 (hg19) | NC_000006.11 | Chr6 | 165,724,666 | 165,732,132 |