nsv7098907
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,785,567
- Description:GRCh38/hg38 17q12(chr17:36138501-37924067) AND Anomalous pulmonary venous return
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 6183 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 3232 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098907 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 36,138,501 | 37,924,067 | ||
| nsv7098907 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 34,900,240 | 35,888,667 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792683 | copy number gain | Multiple | Multiple | Anomalous pulmonary venous return; Anomalous pulmonary venous return | Pathogenic | ClinVar | RCV003223580.2, VCV002499653.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792683 | Submitted genomic | NC_000017.11:g.(?_ 36138501)_(3792406 7_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 36,138,501 | 37,924,067 | ||
| nssv18792683 | Remapped | Pass | NC_000017.10:g.(?_ 34900240)_(3588866 7_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 34,900,240 | 35,888,667 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792683 | GRCh38: NC_000017.11:g.(?_36138501)_(37924067_?)dup | copy number gain | unknown | Anomalous pulmonary venous return; Anomalous pulmonary venous return | Pathogenic | ClinVar | RCV003223580.2, VCV002499653.1 |