nsv3242431
- 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:125,429
- 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: 515 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 515 SVs from 64 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3242431 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 63,701,008 | 63,826,436 | ||
nsv3242431 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 65,460,768 | 65,586,196 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14253739 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14253739 | Submitted genomic | NC_000010.11:g.(63 701008_?)_(?_63826 436)ins150 | GRCh38 (hg38) | NC_000010.11 | Chr10 | 63,701,008 | 63,826,436 | ||
nssv14253739 | Remapped | Perfect | NC_000010.10:g.(65 460768_?)_(?_65586 196)ins150 | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 65,460,768 | 65,586,196 |