nsv6137240
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:740,002
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: 1492 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 1600 SVs from 54 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6137240 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 9,522,391 | 10,262,392 |
nsv6137240 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 9,360,000 | 10,100,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17680425 | copy number loss | SAMN20524664 | Sequencing | Paired-end mapping | 739 |
nssv17682871 | copy number loss | SAMN20524654 | Sequencing | Paired-end mapping | 440 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17680425 | Remapped | Perfect | NC_000024.10:g.952 2391_10262392del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 9,522,391 | 10,262,392 |
nssv17682871 | Remapped | Perfect | NC_000024.10:g.952 2391_10262392del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 9,522,391 | 10,262,392 |
nssv17680425 | Submitted genomic | NC_000024.9:g.9360 000_10100001del | GRCh37 (hg19) | NC_000024.9 | ChrY | 9,360,000 | 10,100,001 | ||
nssv17682871 | Submitted genomic | NC_000024.9:g.9360 000_10100001del | GRCh37 (hg19) | NC_000024.9 | ChrY | 9,360,000 | 10,100,001 |