nsv1124577
- 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:101,001
- 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: 276 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 419 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1124577 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NT_113796.3 | Chr14|NT_1 13796.3 | 100,584 | 201,584 |
| nsv1124577 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 143,443,400 | 143,544,400 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3976631 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3976631 | Remapped | Perfect | NT_113796.3:g.(100 584_?)_(?_201584)d up | GRCh38.p12 | First Pass | NT_113796.3 | Chr14|NT_1 13796.3 | 100,584 | 201,584 |
| nssv3976631 | Submitted genomic | NC_000001.10:g.(14 3443400_?)_(?_1435 44400)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 143,443,400 | 143,544,400 |