nsv6133294
- 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:296,628
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: 4870 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1864 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1808 SVs from 76 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6133294 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 150,208 | 446,835 |
nsv6133294 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 90,208 | 375,691 |
nsv6133294 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 1 | 300,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17677976 | copy number loss | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17677976 | Remapped | Good | NW_003315952.3:g.9 0208_375691del | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 90,208 | 375,691 |
nssv17677976 | Remapped | Good | NC_000017.11:g.150 208_446835del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 150,208 | 446,835 |
nssv17677976 | Submitted genomic | NC_000017.10:g.1_3 00001del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 1 | 300,001 |