nsv6633251
- 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:439,267
- 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: 1344 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1350 SVs from 79 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6633251 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 20,976,422 | 21,415,688 |
nsv6633251 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 20,976,421 | 21,415,687 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18296160 | duplication | OSC4492 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18296160 | Remapped | Perfect | NC_000009.12:g.(?_ 20976422)_(2141568 8_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 20,976,422 | 21,415,688 |
nssv18296160 | Submitted genomic | NC_000009.11:g.(?_ 20976421)_(2141568 7_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 20,976,421 | 21,415,687 |