nsv1112539
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:78,640
- Publication(s):Alsmadi et al. 2014
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: 261 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv1112539 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000001.11 | Chr1 | - | 103,382,377 | 103,461,016 | - |
| nsv1112539 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 103,785,200 | - | - | 103,913,900 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3966639 | deletion | KWS2 | Sequencing | Read depth and paired-end mapping | 21,718 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv3966639 | Remapped | Pass | NC_000001.11:g.(?_ 103382377)_(103461 016_?)del | GRCh38.p12 | Second Pass | NC_000001.11 | Chr1 | - | 103,382,377 | 103,461,016 | - |
| nssv3966639 | Submitted genomic | NC_000001.10:g.(10 3785200_?)_(?_1039 13900)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 103,785,200 | - | - | 103,913,900 |