nsv4436389
- 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:512
- Description:chr1:248525146-248525657 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: 300 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 301 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436389 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 248,361,844 | 248,362,355 |
| nsv4436389 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187518.1 | Chr1|NT_18 7518.1 | 9,818 | 10,329 |
| nsv4436389 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187646.1 | Chr1|NT_18 7646.1 | 9,818 | 10,329 |
| nsv4436389 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 248,525,146 | 248,525,657 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15754715 | complex substitution | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207082.1, VCV000221360.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv15754715 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187518.1 | Chr1|NT_18 7518.1 | 9,818 | 10,329 |
| nssv15754715 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187646.1 | Chr1|NT_18 7646.1 | 9,818 | 10,329 |
| nssv15754715 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,361,844 | 248,362,355 |
| nssv15754715 | Submitted genomic | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,525,146 | 248,525,657 |
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 |
|---|---|---|---|---|---|---|
| nssv15754715 | complex substitution | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207082.1, VCV000221360.1 |