nsv7095992
- 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:270,433
- Description:NC_000001.10:g.(?_38003349)_(38273852_?)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: 830 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 845 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095992 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 37,537,748 | 37,808,180 |
| nsv7095992 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 38,003,349 | 38,273,852 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787698 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003122704.1, VCV002426871.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787698 | Remapped | Good | NC_000001.11:g.(?_ 37537748)_(3780818 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 37,537,748 | 37,808,180 |
| nssv18787698 | Submitted genomic | NC_000001.10:g.(?_ 38003349)_(3827385 2_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 38,003,349 | 38,273,852 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787698 | GRCh37: NC_000001.10:g.(?_38003349)_(38273852_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003122704.1, VCV002426871.2 |