nsv1398643
- 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:49,012
- Description:GRCh37/hg19 8p11.22(chr8:39645687-39694694)x4 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: 207 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 207 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1398643 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,788,168 | 39,837,175 |
| nsv1398643 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 538,800 | 587,811 |
| nsv1398643 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 39,645,687 | 39,694,694 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8640000 | copy number gain | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207092.1, VCV000221466.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8640000 | Remapped | Good | NT_187577.1:g.5388 00_587811dup | GRCh38.p12 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 538,800 | 587,811 |
| nssv8640000 | Remapped | Perfect | NC_000008.11:g.397 88168_39837175dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,788,168 | 39,837,175 |
| nssv8640000 | Submitted genomic | NC_000008.10:g.396 45687_39694694dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,645,687 | 39,694,694 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8640000 | GRCh37: NC_000008.10:g.39645687_39694694dup | copy number gain | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207092.1, VCV000221466.1 | 4 |