nsv3168432
- 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:107,738,834
- 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: 264901 SVs from 154 studies. See in: genome view
Overlapping variant regions from other studies: 264261 SVs from 154 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168432 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 32,866,939 (-318, +318) | 140,605,772 (-318, +318) |
| nsv3168432 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 33,092,006 (-318, +318) | 141,363,341 (-318, +318) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14238797 | deletion | DB57 | Sequencing | Paired-end mapping | 76 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14238797 | Remapped | Good | NC_000002.12:g.(32 866621_32867257)_( 140605454_14060609 0)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,866,939 (-318, +318) | 140,605,772 (-318, +318) |
| nssv14238797 | Submitted genomic | NC_000002.11:g.(33 091688_33092324)_( 141363023_14136365 9)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 33,092,006 (-318, +318) | 141,363,341 (-318, +318) |