nsv3947929
- Organism: Homo sapiens
- Study:nstd167 (Wenger et al. 2019)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 27 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3947929 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 41,382,200 | 41,382,200 |
| nsv3947929 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646194.1 | Chr1|NW_00 9646194.1 | 131,896 | 131,896 |
| nsv3947929 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 41,847,872 | 41,847,872 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv15192521 | insertion | SAMN03283347 | Sequencing | de novo and local sequence assembly | Homozygous | 30,634 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15192521 | Remapped | Perfect | NW_009646194.1:g.1 31896_131897ins200 | GRCh38.p12 | Second Pass | NW_009646194.1 | Chr1|NW_00 9646194.1 | 131,896 | 131,896 |
| nssv15192521 | Remapped | Perfect | NC_000001.11:g.413 82200_41382201ins2 00 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 41,382,200 | 41,382,200 |
| nssv15192521 | Submitted genomic | NC_000001.10:g.418 47872_41847873ins2 00 | GRCh37 (hg19) | NC_000001.10 | Chr1 | 41,847,872 | 41,847,872 |