nsv3914059
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:14,073,855
- Description:GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 34087 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 34108 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 8228 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914059 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 77,765,431 | 91,839,285 |
| nsv3914059 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 78,677,666 | 92,851,513 |
| nsv3914059 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 78,840,221 | 92,920,689 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147910 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054261.5, VCV000060379.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147910 | Submitted genomic | NC_000008.11:g.(?_ 77765431)_(9183928 5_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 77,765,431 | 91,839,285 |
| nssv15147910 | Submitted genomic | NC_000008.10:g.(?_ 78677666)_(9285151 3_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 78,677,666 | 92,851,513 |
| nssv15147910 | Submitted genomic | NC_000008.9:g.(?_7 8840221)_(92920689 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 78,840,221 | 92,920,689 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147910 | GRCh37: NC_000008.10:g.(?_78677666)_(92851513_?)del, GRCh38: NC_000008.11:g.(?_77765431)_(91839285_?)del, NCBI36: NC_000008.9:g.(?_78840221)_(92920689_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000054261.5, VCV000060379.1 | 1 |