nsv3949957
- 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:35
- 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: 20 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3949957 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 52,711,011 | 52,711,045 |
| nsv3949957 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 53,177,729 | 53,177,763 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv15183712 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv15183712 | Remapped | Perfect | NC_000014.9:g.5271 1011_52711045del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 52,711,011 | 52,711,045 |
| nssv15183712 | Submitted genomic | NC_000014.8:g.5317 7729_53177763del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 53,177,729 | 53,177,763 |