nsv3233670
- 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:38,981
- 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: 337 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 337 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3233670 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 38,760,981 | 38,799,961 | ||
| nsv3233670 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 39,251,621 | 39,290,601 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14263781 | insertion | SAMN00006579 | Optical mapping | Optical mapping | Homozygous | 13,953 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14263781 | Submitted genomic | NC_000019.10:g.(38 760981_?)_(?_38799 961)ins112 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 38,760,981 | 38,799,961 | ||
| nssv14263781 | Remapped | Perfect | NC_000019.9:g.(392 51621_?)_(?_392906 01)ins112 | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 39,251,621 | 39,290,601 |