nsv6629496
- Organism: Homo sapiens
- Study:nstd224 (Zarrei 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:11,075
- Publication(s):Zarrei 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: 123 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 35 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6629496 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 55,605,266 | 55,616,340 |
nsv6629496 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 56,471,433 | 56,482,507 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18296936 | deletion | OSC4864 | SNP array | Probe signal intensity | nssv18296935, nssv18297262, nssv18297261 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18296936 | Remapped | Perfect | NC_000004.12:g.(?_ 55605266)_(5561634 0_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 55,605,266 | 55,616,340 |
nssv18296936 | Submitted genomic | NC_000004.11:g.(?_ 56471433)_(5648250 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 56,471,433 | 56,482,507 |