nsv3950220
- 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:39
- 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: 57 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 57 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3950220 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 74,332,179 | 74,332,217 |
| nsv3950220 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 72,328,318 | 72,328,356 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv15176564 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv15176564 | Remapped | Perfect | NC_000017.11:g.743 32179_74332217del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 74,332,179 | 74,332,217 |
| nssv15176564 | Submitted genomic | NC_000017.10:g.723 28318_72328356del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 72,328,318 | 72,328,356 |