nsv3944242
- Organism: Homo sapiens
- Study:nstd167 (Wenger 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:6,787
- Publication(s):Wenger 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: 50 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3944242 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 45,509,370 | 45,516,156 |
| nsv3944242 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 45,903,153 | 45,909,939 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv15182243 | deletion | SAMN03283347 | Sequencing | de novo and local sequence assembly | Heterozygous | 30,634 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15182243 | Remapped | Perfect | NC_000012.12:g.455 09370_45516156del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,509,370 | 45,516,156 |
| nssv15182243 | Submitted genomic | NC_000012.11:g.459 03153_45909939del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 45,903,153 | 45,909,939 |