nsv3214949
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:101,353
- Publication(s):Chaisson 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: 475 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 475 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3214949 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 91,826,258 | 91,927,610 | ||
| nsv3214949 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 91,081,257 | 91,182,609 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14270457 | insertion | SAMN00001695 | Optical mapping | Optical mapping | Heterozygous | 15,732 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14270457 | Submitted genomic | NC_000023.11:g.(91 826258_?)_(?_91927 610)ins920 | GRCh38 (hg38) | NC_000023.11 | ChrX | 91,826,258 | 91,927,610 | ||
| nssv14270457 | Remapped | Perfect | NC_000023.10:g.(91 081257_?)_(?_91182 609)ins920 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 91,081,257 | 91,182,609 |