nsv1398514
- 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:34,461
- Description:GRCh37/hg19 6q27(chr6:167412952-167447412)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: 212 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 52 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv1398514 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 166,999,464 | 167,033,924 |
nsv1398514 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 167,412,952 | 167,447,412 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv8639869 | copy number gain | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207260.1, VCV000221459.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv8639869 | Remapped | Perfect | NC_000006.12:g.166 999464_167033924du p | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 166,999,464 | 167,033,924 |
nssv8639869 | Submitted genomic | NC_000006.11:g.167 412952_167447412du p | GRCh37 (hg19) | NC_000006.11 | Chr6 | 167,412,952 | 167,447,412 |
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 |
---|---|---|---|---|---|---|---|---|
nssv8639869 | GRCh37: NC_000006.11:g.167412952_167447412dup | copy number gain | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207260.1, VCV000221459.1 | 3 |