nsv1398222
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:18,400
- Description:GRCh38/hg38 1p36.12(chr1:20810811-20829210)x0 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: 116 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv1398222 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 20,810,811 | 20,829,210 |
| nsv1398222 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 21,137,304 | 21,155,703 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639576 | copy number loss | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207030.1, VCV000221374.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv8639576 | Submitted genomic | NC_000001.11:g.208 10811_20829210del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 20,810,811 | 20,829,210 |
| nssv8639576 | Submitted genomic | NC_000001.10:g.211 37304_21155703del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 21,137,304 | 21,155,703 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8639576 | GRCh37: NC_000001.10:g.21137304_21155703del, GRCh38: NC_000001.11:g.20810811_20829210del | copy number loss | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207030.1, VCV000221374.1 | 0 |