nsv6628904
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,385
- 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: 148 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 38 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6628904 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 105,542,556 | 105,552,940 |
nsv6628904 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 106,463,713 | 106,474,097 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18282899 | deletion | OSC2293 | SNP array | Probe signal intensity | 8 |
nssv18324362 | deletion | OSC1702 | SNP array | Probe signal intensity | 8 |
nssv18325021 | deletion | OSC1961 | SNP array | Probe signal intensity | nssv18325022, nssv18325020 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18282899 | Remapped | Perfect | NC_000004.12:g.(?_ 105542556)_(105552 940_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 105,542,556 | 105,552,940 |
nssv18324362 | Remapped | Perfect | NC_000004.12:g.(?_ 105542556)_(105552 940_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 105,542,556 | 105,552,940 |
nssv18325021 | Remapped | Perfect | NC_000004.12:g.(?_ 105542556)_(105552 940_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 105,542,556 | 105,552,940 |
nssv18282899 | Submitted genomic | NC_000004.11:g.(?_ 106463713)_(106474 097_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 106,463,713 | 106,474,097 | ||
nssv18324362 | Submitted genomic | NC_000004.11:g.(?_ 106463713)_(106474 097_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 106,463,713 | 106,474,097 | ||
nssv18325021 | Submitted genomic | NC_000004.11:g.(?_ 106463713)_(106474 097_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 106,463,713 | 106,474,097 |