nsv3242797
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,104
- 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: 342 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 342 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3242797 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 73,100,606 | 73,191,709 | ||
| nsv3242797 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 73,494,386 | 73,585,489 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14255384 | insertion | SAMN00006580 | Optical mapping | Optical mapping | Heterozygous | 14,212 |
| nssv14255385 | insertion | SAMN00001694 | Optical mapping | Optical mapping | Heterozygous | 16,419 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14255384 | Submitted genomic | NC_000012.12:g.(73 100606_?)_(?_73191 709)ins648 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 73,100,606 | 73,191,709 | ||
| nssv14255385 | Submitted genomic | NC_000012.12:g.(73 100606_?)_(?_73191 709)ins648 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 73,100,606 | 73,191,709 | ||
| nssv14255384 | Remapped | Perfect | NC_000012.11:g.(73 494386_?)_(?_73585 489)ins648 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 73,494,386 | 73,585,489 |
| nssv14255385 | Remapped | Perfect | NC_000012.11:g.(73 494386_?)_(?_73585 489)ins648 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 73,494,386 | 73,585,489 |