nsv6625064
- 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:114,062
- 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: 1319 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 331 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 1319 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625064 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 815,834 | 929,895 |
| nsv6625064 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187622.1 | Chr19|NT_1 87622.1 | 1 | 61,733 |
| nsv6625064 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 815,834 | 929,895 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18296850 | duplication | OSC4806 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18296850 | Remapped | Pass | NT_187622.1:g.(?_1 )_(61733_?)dup | GRCh38.p12 | Second Pass | NT_187622.1 | Chr19|NT_1 87622.1 | 1 | 61,733 |
| nssv18296850 | Remapped | Perfect | NC_000019.10:g.(?_ 815834)_(929895_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 815,834 | 929,895 |
| nssv18296850 | Submitted genomic | NC_000019.9:g.(?_8 15834)_(929895_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 815,834 | 929,895 |