nsv5564317
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:263,569
- Description:
Single allele AND Syndromic intellectual disability
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 546 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 473 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564317 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 41,983,952 | 42,247,520 | ||
| nsv5564317 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 42,514,712 | 42,751,672 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059598 | deletion | Multiple | Multiple | Syndromic intellectual disability | Pathogenic | ClinVar | RCV001374687.1, VCV001064658.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17059598 | Submitted genomic | NC_000019.10:g.419 83952_42247520del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 41,983,952 | 42,247,520 | ||
| nssv17059598 | Remapped | Pass | NC_000019.9:g.4251 4712_42751672del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 42,514,712 | 42,751,672 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059598 | GRCh38: NC_000019.10:g.41983952_42247520del | deletion | inherited | Syndromic intellectual disability | Pathogenic | ClinVar | RCV001374687.1, VCV001064658.1 |