nsv3168947
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:87,771,113
- Publication(s):Cleal 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: 213725 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 212933 SVs from 152 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168947 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 32,916,253 (-286, +286) | 120,687,365 (-286, +286) |
| nsv3168947 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 33,141,320 (-286, +286) | 121,444,941 (-286, +286) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239497 | duplication | DB56 | Sequencing | Paired-end mapping | 34 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239497 | Remapped | Good | NC_000002.12:g.(32 915967_32916539)_( 120687079_12068765 1)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,916,253 (-286, +286) | 120,687,365 (-286, +286) |
| nssv14239497 | Submitted genomic | NC_000002.11:g.(33 141034_33141606)_( 121444655_12144522 7)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 33,141,320 (-286, +286) | 121,444,941 (-286, +286) |