nsv4349613
- 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:7,071,036
- Description:GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 17736 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 17738 SVs from 124 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349613 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 79,938,055 | 87,009,090 |
| nsv4349613 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 81,697,811 | 88,768,847 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606039 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767565.1, VCV000625557.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606039 | Remapped | Perfect | NC_000010.11:g.(?_ 79938055)_(8700909 0_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 79,938,055 | 87,009,090 |
| nssv15606039 | Submitted genomic | NC_000010.10:g.(?_ 81697811)_(8876884 7_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 81,697,811 | 88,768,847 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606039 | GRCh37: NC_000010.10:g.(?_81697811)_(88768847_?)del | copy number loss | paternal | not provided | Pathogenic | ClinVar | RCV000767565.1, VCV000625557.1 |