nsv4436532
- 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:36,371,736
- Description:Single allele 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: 88984 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 88988 SVs from 136 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436532 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 188,062,201 | 224,433,936 |
| nsv4436532 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 188,926,928 | 225,298,653 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15755802 | duplication | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV000787403.2, VCV000635897.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15755802 | Remapped | Perfect | NC_000002.12:g.188 062201_224433936du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 188,062,201 | 224,433,936 |
| nssv15755802 | Submitted genomic | NC_000002.11:g.188 926928_225298653du p | GRCh37 (hg19) | NC_000002.11 | Chr2 | 188,926,928 | 225,298,653 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15755802 | GRCh37: NC_000002.11:g.188926928_225298653dup | duplication | germline | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV000787403.2, VCV000635897.2 |