nsv6135632
- 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:79,603
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: 330 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 330 SVs from 48 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6135632 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 160,266,220 | 160,266,223 | 160,345,819 | 160,345,822 |
nsv6135632 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 159,693,227 | 159,693,230 | 159,772,826 | 159,772,829 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17681513 | deletion | SAMN20524657 | Sequencing | Paired-end mapping | 656 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17681513 | Remapped | Perfect | NC_000005.10:g.(16 0266220_160266223) _(160345819_160345 822)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 160,266,220 | 160,266,223 | 160,345,819 | 160,345,822 |
nssv17681513 | Submitted genomic | NC_000005.9:g.(159 693227_159693230)_ (159772826_1597728 29)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 159,693,227 | 159,693,230 | 159,772,826 | 159,772,829 |