nsv6635119
- Organism: Homo sapiens
- Study:nstd227 (Kikas et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:418,697
- Publication(s):Kikas et al. 2023
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: 1908 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1908 SVs from 94 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6635119 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,748,843 | 144,167,539 |
nsv6635119 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,669,996 | 145,088,692 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18328375 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18328375 | Remapped | Perfect | NC_000004.12:g.(14 3748843_?)_(?_1441 67539)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,748,843 | 144,167,539 |
nssv18328375 | Submitted genomic | NC_000004.11:g.(14 4669996_?)_(?_1450 88692)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,669,996 | 145,088,692 |