nsv3919731
- 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:6,579,498
- Description:GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)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: 18332 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 18336 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 4720 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919731 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 25,171,103 | 31,750,600 |
| nsv3919731 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 25,028,618 | 31,608,116 |
| nsv3919731 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 25,084,535 | 31,727,658 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134674 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138081.6, VCV000149021.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134674 | Submitted genomic | NC_000008.11:g.(?_ 25171103)_(3175060 0_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 25,171,103 | 31,750,600 |
| nssv15134674 | Submitted genomic | NC_000008.10:g.(?_ 25028618)_(3160811 6_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 25,028,618 | 31,608,116 |
| nssv15134674 | Submitted genomic | NC_000008.9:g.(?_2 5084535)_(31727658 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 25,084,535 | 31,727,658 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134674 | GRCh37: NC_000008.10:g.(?_25028618)_(31608116_?)del, GRCh38: NC_000008.11:g.(?_25171103)_(31750600_?)del, NCBI36: NC_000008.9:g.(?_25084535)_(31727658_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000138081.6, VCV000149021.2 | 1 |