nsv1398524
- 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:92,040
- Description:GRCh37/hg19 9q21.2(chr9:79816302-79908341)x3 AND Ductal breast carcinoma
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 233 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 233 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1398524 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 77,201,386 | 77,293,425 |
| nsv1398524 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 79,816,302 | 79,908,341 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639878 | copy number gain | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207306.1, VCV000221468.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8639878 | Remapped | Perfect | NC_000009.12:g.772 01386_77293425dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 77,201,386 | 77,293,425 |
| nssv8639878 | Submitted genomic | NC_000009.11:g.798 16302_79908341dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 79,816,302 | 79,908,341 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8639878 | GRCh37: NC_000009.11:g.79816302_79908341dup | copy number gain | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207306.1, VCV000221468.1 | 3 |