nsv1398572
- 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:43,603
- Description:GRCh37/hg19 3p21.31(chr3:48501854-48541490)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: 293 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1398572 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 48,460,455 | 48,504,057 |
| nsv1398572 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 48,501,854 | 48,541,490 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639928 | copy number gain | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207132.1, VCV000221432.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8639928 | Remapped | Pass | NC_000003.12:g.484 60455_48504057dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 48,460,455 | 48,504,057 |
| nssv8639928 | Submitted genomic | NC_000003.11:g.485 01854_48541490dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 48,501,854 | 48,541,490 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8639928 | GRCh37: NC_000003.11:g.48501854_48541490dup | copy number gain | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207132.1, VCV000221432.1 | 3 |