nsv3245804
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:161,708
- 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: 360 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 334 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3245804 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 111,693,308 | 111,855,015 | ||
| nsv3245804 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 112,345,655 | 112,509,329 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14257327 | insertion | HG00512 | Optical mapping | Optical mapping | Homozygous | 13,827 |
| nssv14257328 | insertion | SAMN00006466 | Optical mapping | Optical mapping | Homozygous | 14,137 |
| nssv14257329 | insertion | HG00514 | Optical mapping | Optical mapping | Homozygous | 39,861 |
| nssv14257330 | insertion | SAMN00006581 | Optical mapping | Optical mapping | Homozygous | 41,185 |
| nssv14257331 | insertion | SAMN00001696 | Optical mapping | Optical mapping | Homozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14257327 | Submitted genomic | NC_000013.11:g.(11 1693308_?)_(?_1118 55015)ins8797 | GRCh38 (hg38) | NC_000013.11 | Chr13 | 111,693,308 | 111,855,015 | ||
| nssv14257328 | Submitted genomic | NC_000013.11:g.(11 1693308_?)_(?_1118 55015)ins8797 | GRCh38 (hg38) | NC_000013.11 | Chr13 | 111,693,308 | 111,855,015 | ||
| nssv14257329 | Submitted genomic | NC_000013.11:g.(11 1693308_?)_(?_1118 55015)ins8797 | GRCh38 (hg38) | NC_000013.11 | Chr13 | 111,693,308 | 111,855,015 | ||
| nssv14257330 | Submitted genomic | NC_000013.11:g.(11 1693308_?)_(?_1118 55015)ins8797 | GRCh38 (hg38) | NC_000013.11 | Chr13 | 111,693,308 | 111,855,015 | ||
| nssv14257331 | Submitted genomic | NC_000013.11:g.(11 1693308_?)_(?_1118 55015)ins8797 | GRCh38 (hg38) | NC_000013.11 | Chr13 | 111,693,308 | 111,855,015 | ||
| nssv14257327 | Remapped | Good | NC_000013.10:g.(11 2345655_?)_(?_1125 09329)ins8797 | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 112,345,655 | 112,509,329 |
| nssv14257328 | Remapped | Good | NC_000013.10:g.(11 2345655_?)_(?_1125 09329)ins8797 | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 112,345,655 | 112,509,329 |
| nssv14257329 | Remapped | Good | NC_000013.10:g.(11 2345655_?)_(?_1125 09329)ins8797 | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 112,345,655 | 112,509,329 |
| nssv14257330 | Remapped | Good | NC_000013.10:g.(11 2345655_?)_(?_1125 09329)ins8797 | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 112,345,655 | 112,509,329 |
| nssv14257331 | Remapped | Good | NC_000013.10:g.(11 2345655_?)_(?_1125 09329)ins8797 | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 112,345,655 | 112,509,329 |