nsv1110457
- 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:139,101
- 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: 1535 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1770 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1110457 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 60,461,353 | 60,600,453 |
| nsv1110457 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 57,429,100 | 57,568,200 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3960108 | duplication | KWS1 | Sequencing | Read depth and paired-end mapping | 22,470 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3960108 | Remapped | Perfect | NC_000006.12:g.(60 461353_?)_(?_60600 453)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 60,461,353 | 60,600,453 |
| nssv3960108 | Submitted genomic | NC_000006.11:g.(57 429100_?)_(?_57568 200)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,429,100 | 57,568,200 |