nsv6137702
- 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:2,600,954
- Description:GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1 AND Neurodevelopmental disorder
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7203 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 7209 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6137702 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 35,059,636 | 37,660,589 |
| nsv6137702 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 35,059,633 | 37,660,586 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17683412 | copy number loss | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV001580195.1, VCV001210154.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17683412 | Remapped | Perfect | NC_000009.12:g.(?_ 35059636)_(3766058 9_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 35,059,636 | 37,660,589 |
| nssv17683412 | Submitted genomic | NC_000009.11:g.(?_ 35059633)_(3766058 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 35,059,633 | 37,660,586 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17683412 | GRCh37: NC_000009.11:g.(?_35059633)_(37660586_?)del | copy number loss | unknown | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV001580195.1, VCV001210154.1 | 1 |