nsv6310726
- 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:2,251
- Description:NC_000001.10:g.(?_151372055)_(151374305_?)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: 167 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 42 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6310726 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 151,399,579 | 151,401,829 |
| nsv6310726 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 151,372,055 | 151,374,305 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17974340 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001883043.3, VCV001374214.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17974340 | Remapped | Perfect | NC_000001.11:g.(?_ 151399579)_(151401 829_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 151,399,579 | 151,401,829 |
| nssv17974340 | Submitted genomic | NC_000001.10:g.(?_ 151372055)_(151374 305_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,372,055 | 151,374,305 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17974340 | GRCh37: NC_000001.10:g.(?_151372055)_(151374305_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001883043.3, VCV001374214.3 |