nsv6135091
- 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:14,239,997
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: 35040 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 35069 SVs from 130 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6135091 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 93,388,849 | 107,628,845 |
nsv6135091 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 94,310,000 | 108,550,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17679235 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv17679235 | Remapped | Perfect | NC_000004.12:g.933 88849_107628845del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 93,388,849 | 107,628,845 |
nssv17679235 | Submitted genomic | NC_000004.11:g.943 10000_108550001del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 94,310,000 | 108,550,001 |