nsv937549
- Organism: Homo sapiens
- Study:nstd84 (de Ligt et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:69,930
- Publication(s):de Ligt et al. 2013
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: 440 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv937549 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 62,619,391 | 62,619,391 | 62,689,320 | 62,689,320 |
| nsv937549 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 63,193,524 | 63,193,524 | 63,263,453 | 63,263,453 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1667918 | Remapped | Perfect | NC_000013.11:g.(62 619391_?)_(?_62678 399)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 62,619,391 | 62,678,399 |
| nssv1667919 | Remapped | Perfect | NC_000013.11:g.(62 626260_?)_(?_62689 320)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 62,626,260 | 62,689,320 |
| nssv1667918 | Submitted genomic | NC_000013.10:g.(63 193524_?)_(?_63252 532)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 63,193,524 | 63,252,532 | ||
| nssv1667919 | Submitted genomic | NC_000013.10:g.(63 200393_?)_(?_63263 453)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 63,200,393 | 63,263,453 |