nsv6134382
- 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:38,508
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: 137 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 34 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134382 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 56,090,869 | 56,090,870 | 56,129,375 | 56,129,376 |
nsv6134382 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 56,124,897 | 56,124,898 | 56,163,403 | 56,163,404 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17682710 | deletion | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17682710 | Remapped | Perfect | NC_000003.12:g.(56 090869_56090870)_( 56129375_56129376) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 56,090,869 | 56,090,870 | 56,129,375 | 56,129,376 |
nssv17682710 | Submitted genomic | NC_000003.11:g.(56 124897_56124898)_( 56163403_56163404) del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 56,124,897 | 56,124,898 | 56,163,403 | 56,163,404 |