nsv6625904
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,905
- 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: 548 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 548 SVs from 81 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6625904 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 16,040,844 | 16,053,748 |
nsv6625904 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 16,367,339 | 16,380,243 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18296435 | duplication | OSC4672 | SNP array | Probe signal intensity | nssv18295737, nssv18295738, nssv18296056 |
nssv18320913 | duplication | OSC1014 | SNP array | Probe signal intensity | nssv18320376, nssv18320629, nssv18320914 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18296435 | Remapped | Perfect | NC_000001.11:g.(?_ 16040844)_(1605374 8_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,040,844 | 16,053,748 |
nssv18320913 | Remapped | Perfect | NC_000001.11:g.(?_ 16040844)_(1605374 8_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,040,844 | 16,053,748 |
nssv18296435 | Submitted genomic | NC_000001.10:g.(?_ 16367339)_(1638024 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,367,339 | 16,380,243 | ||
nssv18320913 | Submitted genomic | NC_000001.10:g.(?_ 16367339)_(1638024 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,367,339 | 16,380,243 |