nsv6134719
- 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:276,324
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: 877 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 877 SVs from 79 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134719 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 100,915,425 | 100,915,430 | 101,191,735 | 101,191,748 |
nsv6134719 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 101,836,582 | 101,836,587 | 102,112,892 | 102,112,905 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17677645 | duplication | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17677645 | Remapped | Perfect | NC_000004.12:g.(10 0915425_100915430) _(101191735_101191 748)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 100,915,425 | 100,915,430 | 101,191,735 | 101,191,748 |
nssv17677645 | Submitted genomic | NC_000004.11:g.(10 1836582_101836587) _(102112892_102112 905)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 101,836,582 | 101,836,587 | 102,112,892 | 102,112,905 |