nsv6310860
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:91
- Description:NC_000001.10:g.(?_228194830)_(228194920_?)dup AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 113 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6310860 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 228,007,129 | 228,007,219 |
| nsv6310860 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 228,194,830 | 228,194,920 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17973194 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002004900.3, VCV001450633.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17973194 | Remapped | Perfect | NC_000001.11:g.(?_ 228007129)_(228007 219_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 228,007,129 | 228,007,219 |
| nssv17973194 | Submitted genomic | NC_000001.10:g.(?_ 228194830)_(228194 920_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 228,194,830 | 228,194,920 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17973194 | GRCh37: NC_000001.10:g.(?_228194830)_(228194920_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV002004900.3, VCV001450633.3 |