nsv4436505
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:130
- Description:chr4:88537276..88537405 complex variant 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: 120 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4436505 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 87,616,124 | 87,616,253 |
nsv4436505 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 88,537,276 | 88,537,405 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15754718 | complex substitution | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207295.1, VCV000221362.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|
nssv15754718 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 87,616,124 | 87,616,253 |
nssv15754718 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 88,537,276 | 88,537,405 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|
nssv15754718 | complex substitution | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207295.1, VCV000221362.1 |