nsv1074188
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:41,022
- Publication(s):Thareja et al. 2015
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: 199 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 40 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv1074188 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000004.12 | Chr4 | 74,416,749 | 74,457,770 |
nsv1074188 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 75,426,199 | 75,493,300 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3769243 | deletion | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3769243 | Remapped | Pass | NC_000004.12:g.744 16749_74457770del | GRCh38.p12 | Second Pass | NC_000004.12 | Chr4 | 74,416,749 | 74,457,770 |
nssv3769243 | Submitted genomic | NC_000004.11:g.754 26199_75493300del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 75,426,199 | 75,493,300 |