nsv6132314
- 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:131,495
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: 533 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 533 SVs from 69 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6132314 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 99,316,432 | 99,316,435 | 99,447,923 | 99,447,926 |
nsv6132314 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 99,710,210 | 99,710,213 | 99,841,701 | 99,841,704 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17680249 | deletion | SAMN20524660 | Sequencing | Paired-end mapping | 208 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17680249 | Remapped | Perfect | NC_000012.12:g.(99 316432_99316435)_( 99447923_99447926) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 99,316,432 | 99,316,435 | 99,447,923 | 99,447,926 |
nssv17680249 | Submitted genomic | NC_000012.11:g.(99 710210_99710213)_( 99841701_99841704) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 99,710,210 | 99,710,213 | 99,841,701 | 99,841,704 |