nsv1122213
- 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:70,541
- 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: 619 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 430 SVs from 52 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv1122213 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000009.12 | Chr9 | - | 66,752,605 | 66,823,145 |
| nsv1122213 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 40,869,700 | - | 40,990,700 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3969658 | 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv3969658 | Remapped | Pass | NC_000009.12:g.(?_ 66752605)_(?_66823 145)del | GRCh38.p12 | Second Pass | NC_000009.12 | Chr9 | - | 66,752,605 | 66,823,145 |
| nssv3969658 | Submitted genomic | NC_000009.11:g.(40 869700_?)_(?_40990 700)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 40,869,700 | - | 40,990,700 |