nsv6625503
- 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:13,808
- 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: 136 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625503 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 58,355,068 | 58,368,875 |
| nsv6625503 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 58,866,434 | 58,880,242 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18286860 | duplication | OSC2976 | SNP array | Probe signal intensity | 10 |
| nssv18295716 | duplication | OSC4653 | SNP array | Probe signal intensity | 5 |
| nssv18297179 | duplication | OSC4804 | SNP array | Probe signal intensity | nssv18297512, nssv18297513 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18286860 | Remapped | Good | NC_000019.10:g.(?_ 58355068)_(5836887 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 58,355,068 | 58,368,875 |
| nssv18295716 | Remapped | Good | NC_000019.10:g.(?_ 58355068)_(5836887 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 58,355,068 | 58,368,875 |
| nssv18297179 | Remapped | Good | NC_000019.10:g.(?_ 58355068)_(5836887 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 58,355,068 | 58,368,875 |
| nssv18286860 | Submitted genomic | NC_000019.9:g.(?_5 8866434)_(58880242 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 58,866,434 | 58,880,242 | ||
| nssv18295716 | Submitted genomic | NC_000019.9:g.(?_5 8866434)_(58880242 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 58,866,434 | 58,880,242 | ||
| nssv18297179 | Submitted genomic | NC_000019.9:g.(?_5 8866434)_(58880242 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 58,866,434 | 58,880,242 |