nsv6137704
- 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:2,360,858
- Description:GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)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: 6312 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 6322 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6137704 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 36,426,625 | 38,787,482 |
| nsv6137704 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 36,426,622 | 38,787,479 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17683444 | copy number loss | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV001580192.1, VCV001210151.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17683444 | Remapped | Perfect | NC_000009.12:g.(?_ 36426625)_(3878748 2_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 36,426,625 | 38,787,482 |
| nssv17683444 | Submitted genomic | NC_000009.11:g.(?_ 36426622)_(3878747 9_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 36,426,622 | 38,787,479 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17683444 | GRCh37: NC_000009.11:g.(?_36426622)_(38787479_?)del | copy number loss | unknown | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV001580192.1, VCV001210151.1 | 1 |