nsv3217926
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:122,088
- Publication(s):Chaisson et al. 2019
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: 609 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 620 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3217926 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 65,899,143 | 66,021,230 | ||
| nsv3217926 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 42,879,721 | 43,001,808 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14282854 | deletion | SAMN00006466 | Optical mapping | Optical mapping | Heterozygous | 14,137 |
| nssv14282855 | deletion | SAMN00006580 | Optical mapping | Optical mapping | Homozygous | 14,212 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14282854 | Submitted genomic | NC_000009.12:g.(65 899143_?)_(?_66021 230)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 65,899,143 | 66,021,230 | ||
| nssv14282855 | Submitted genomic | NC_000009.12:g.(65 899143_?)_(?_66021 230)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 65,899,143 | 66,021,230 | ||
| nssv14282854 | Remapped | Perfect | NC_000009.11:g.(42 879721_?)_(?_43001 808)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 42,879,721 | 43,001,808 |
| nssv14282855 | Remapped | Perfect | NC_000009.11:g.(42 879721_?)_(?_43001 808)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 42,879,721 | 43,001,808 |