nsv4436557
- 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:1,738,585
- 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: 5131 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 5132 SVs from 106 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436557 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 239,260,654 | 240,999,238 |
| nsv4436557 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 239,423,954 | 241,162,538 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15755178 | deletion | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Uncertain significance | ClinVar | RCV000787415.2, VCV000635909.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15755178 | Remapped | Perfect | NC_000001.11:g.239 260654_240999238de l | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 239,260,654 | 240,999,238 |
| nssv15755178 | Submitted genomic | NC_000001.10:g.239 423954_241162538de l | GRCh37 (hg19) | NC_000001.10 | Chr1 | 239,423,954 | 241,162,538 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15755178 | GRCh37: NC_000001.10:g.239423954_241162538del | deletion | germline | Neurodevelopmental Disorders; Neurodevelopmental disorder | Uncertain significance | ClinVar | RCV000787415.2, VCV000635909.2 |