nsv1112721
- 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:106,733
- 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: 269 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1112721 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 79,550,216 | 79,656,948 |
| nsv1112721 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 77,546,300 | 77,630,800 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3967210 | 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3967210 | Remapped | Pass | NC_000017.11:g.(79 550216_?)_(?_79656 948)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 79,550,216 | 79,656,948 |
| nssv3967210 | Submitted genomic | NC_000017.10:g.(77 546300_?)_(?_77630 800)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 77,546,300 | 77,630,800 |