nsv6625038
- 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:83,713
- 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: 822 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 480 SVs from 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625038 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 765,580 | 849,292 |
| nsv6625038 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,294,466 | 55,378,178 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18287821 | deletion | OSC3137 | SNP array | Probe signal intensity | nssv18287464, nssv18288710, nssv18288711 |
| nssv18290951 | deletion | OSC3632 | SNP array | Probe signal intensity | 9 |
| nssv18292589 | deletion | OSC3924 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18287821 | Remapped | Perfect | NT_187693.1:g.(?_7 65580)_(849292_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 765,580 | 849,292 |
| nssv18290951 | Remapped | Perfect | NT_187693.1:g.(?_7 65580)_(849292_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 765,580 | 849,292 |
| nssv18292589 | Remapped | Perfect | NT_187693.1:g.(?_7 65580)_(849292_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 765,580 | 849,292 |
| nssv18287821 | Submitted genomic | NC_000019.9:g.(?_5 5294466)_(55378178 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,294,466 | 55,378,178 | ||
| nssv18290951 | Submitted genomic | NC_000019.9:g.(?_5 5294466)_(55378178 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,294,466 | 55,378,178 | ||
| nssv18292589 | Submitted genomic | NC_000019.9:g.(?_5 5294466)_(55378178 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,294,466 | 55,378,178 |