nsv6133521
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:580,003
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: 2563 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2563 SVs from 83 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6133521 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 17,089,190 | 17,669,192 |
nsv6133521 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 17,200,000 | 17,780,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17679188 | copy number gain | SAMN20524663 | Sequencing | Paired-end mapping | 244 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17679188 | Remapped | Perfect | NC_000019.10:g.170 89190_17669192dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 17,089,190 | 17,669,192 |
nssv17679188 | Submitted genomic | NC_000019.9:g.1720 0000_17780001dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 17,200,000 | 17,780,001 |