nsv1398398
- 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:63,461
- Description:GRCh37/hg19 2q31.1(chr2:170009392-170072852)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: 256 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 48 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv1398398 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 169,152,882 | 169,216,342 |
nsv1398398 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 170,009,392 | 170,072,852 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv8639750 | copy number gain | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207321.1, VCV000221425.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv8639750 | Remapped | Perfect | NC_000002.12:g.169 152882_169216342du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 169,152,882 | 169,216,342 |
nssv8639750 | Submitted genomic | NC_000002.11:g.170 009392_170072852du p | GRCh37 (hg19) | NC_000002.11 | Chr2 | 170,009,392 | 170,072,852 |
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 |
---|---|---|---|---|---|---|---|---|
nssv8639750 | GRCh37: NC_000002.11:g.170009392_170072852dup | copy number gain | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207321.1, VCV000221425.1 | 3 |