nsv6133458
- 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:360,002
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: 1461 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1461 SVs from 80 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6133458 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 66,642,763 | 67,002,764 |
nsv6133458 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 64,310,000 | 64,670,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17679369 | copy number loss | SAMN20524655 | Sequencing | Paired-end mapping | 909 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17679369 | Remapped | Perfect | NC_000018.10:g.666 42763_67002764del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 66,642,763 | 67,002,764 |
nssv17679369 | Submitted genomic | NC_000018.9:g.6431 0000_64670001del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 64,310,000 | 64,670,001 |