nsv3234136
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:112,193
- 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: 3247 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3251 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3234136 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 32,442,515 | 32,554,707 | ||
| nsv3234136 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 32,453,836 | 32,566,028 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14260697 | insertion | SAMN00006579 | Optical mapping | Optical mapping | Heterozygous | 13,953 |
| nssv14260698 | insertion | SAMN00006580 | Optical mapping | Optical mapping | Heterozygous | 14,212 |
| nssv14260699 | insertion | SAMN00001695 | Optical mapping | Optical mapping | Homozygous | 15,732 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14260697 | Submitted genomic | NC_000016.10:g.(32 442515_?)_(?_32554 707)ins35645 | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,442,515 | 32,554,707 | ||
| nssv14260698 | Submitted genomic | NC_000016.10:g.(32 442515_?)_(?_32554 707)ins35645 | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,442,515 | 32,554,707 | ||
| nssv14260699 | Submitted genomic | NC_000016.10:g.(32 442515_?)_(?_32554 707)ins35645 | GRCh38 (hg38) | NC_000016.10 | Chr16 | 32,442,515 | 32,554,707 | ||
| nssv14260697 | Remapped | Perfect | NC_000016.9:g.(324 53836_?)_(?_325660 28)ins35645 | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,453,836 | 32,566,028 |
| nssv14260698 | Remapped | Perfect | NC_000016.9:g.(324 53836_?)_(?_325660 28)ins35645 | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,453,836 | 32,566,028 |
| nssv14260699 | Remapped | Perfect | NC_000016.9:g.(324 53836_?)_(?_325660 28)ins35645 | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,453,836 | 32,566,028 |