nsv1398030
- 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:10,223,765
- Description:GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)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: 29160 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 29160 SVs from 144 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1398030 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 19,579,090 | 29,802,854 |
| nsv1398030 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 19,590,412 | 29,814,175 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639380 | copy number gain | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207226.1, VCV000221513.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8639380 | Remapped | Perfect | NC_000016.10:g.195 79090_29802854dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 19,579,090 | 29,802,854 |
| nssv8639380 | Submitted genomic | NC_000016.9:g.1959 0412_29814175dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 19,590,412 | 29,814,175 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8639380 | GRCh37: NC_000016.9:g.19590412_29814175dup | copy number gain | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207226.1, VCV000221513.1 | 3 |