nsv6136142
- 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:1,190,003
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: 2365 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2365 SVs from 88 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6136142 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 93,734,294 | 94,924,296 |
nsv6136142 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 93,070,000 | 94,260,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17677894 | copy number loss | SAMN20524664 | Sequencing | Paired-end mapping | 739 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17677894 | Remapped | Perfect | NC_000005.10:g.937 34294_94924296del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 93,734,294 | 94,924,296 |
nssv17677894 | Submitted genomic | NC_000005.9:g.9307 0000_94260001del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 93,070,000 | 94,260,001 |