nsv4578678
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:808
- Description:GRCh38/hg38 20p13(chr20:3672810-3673617)x1 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: 80 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4578678 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 3,672,810 | 3,673,617 |
| nsv4578678 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 3,653,457 | 3,654,264 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639406 | copy number loss | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207077.3, VCV000221543.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv8639406 | Submitted genomic | NC_000020.11:g.367 2810_3673617del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 3,672,810 | 3,673,617 |
| nssv8639406 | Submitted genomic | NC_000020.10:g.365 3457_3654264del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 3,653,457 | 3,654,264 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8639406 | GRCh37: NC_000020.10:g.3653457_3654264del, GRCh38: NC_000020.11:g.3672810_3673617del | copy number loss | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207077.3, VCV000221543.3 | 1 |