nsv4435900
- 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:14,930,997
- 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: 45578 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 45562 SVs from 134 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4435900 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,001,865 | 27,932,861 |
| nsv4435900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 14,374,186 | 29,305,180 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15755175 | duplication | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Likely pathogenic | ClinVar | RCV000787411.2, VCV000635905.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15755175 | Remapped | Perfect | NC_000021.9:g.1300 1865_27932861dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,001,865 | 27,932,861 |
| nssv15755175 | Submitted genomic | NC_000021.8:g.1437 4186_29305180dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,374,186 | 29,305,180 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15755175 | GRCh37: NC_000021.8:g.14374186_29305180dup | duplication | germline | Neurodevelopmental Disorders; Neurodevelopmental disorder | Likely pathogenic | ClinVar | RCV000787411.2, VCV000635905.2 |