nsv6134125
- 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:222,806
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: 552 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 552 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134125 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 204,770,330 | 204,770,332 | 204,993,133 | 204,993,135 |
nsv6134125 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 205,635,053 | 205,635,055 | 205,857,856 | 205,857,858 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17679276 | duplication | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17679276 | Remapped | Perfect | NC_000002.12:g.(20 4770330_204770332) _(204993133_204993 135)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 204,770,330 | 204,770,332 | 204,993,133 | 204,993,135 |
nssv17679276 | Submitted genomic | NC_000002.11:g.(20 5635053_205635055) _(205857856_205857 858)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 205,635,053 | 205,635,055 | 205,857,856 | 205,857,858 |