nsv1115449
- 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:127,401
- 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: 541 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 552 SVs from 51 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1115449 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 18,414,123 | 18,541,523 |
nsv1115449 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 19,190,600 | 19,318,000 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3976504 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv3976504 | Remapped | Perfect | NC_000014.9:g.(184 14123_?)_(?_185415 23)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 18,414,123 | 18,541,523 |
nssv3976504 | Submitted genomic | NC_000014.8:g.(191 90600_?)_(?_193180 00)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 19,190,600 | 19,318,000 |