nsv3894780
- 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:159,319,139
- Description:GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 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: 453046 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 451382 SVs from 152 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3894780 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 10,704 | 159,329,842 |
| nsv3894780 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 10,704 | 159,122,532 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15168013 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000746278.2, VCV000609642.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15168013 | Remapped | Good | NC_000007.14:g.(?_ 10704)_(159329842_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 10,704 | 159,329,842 |
| nssv15168013 | Submitted genomic | NC_000007.13:g.(?_ 10704)_(159122532_ ?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 10,704 | 159,122,532 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15168013 | GRCh37: NC_000007.13:g.(?_10704)_(159122532_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000746278.2, VCV000609642.2 | 3 |