nsv7148227
- 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:4,611,490
- Description:GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)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: 32412 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 30078 SVs from 131 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148227 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 102,263,440 | 106,874,929 | ||
| nsv7148227 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 102,729,777 | 107,283,138 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841864 | copy number loss | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV003327606.2, VCV002579167.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841864 | Submitted genomic | NC_000014.9:g.1022 63440_106874929del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 102,263,440 | 106,874,929 | ||
| nssv18841864 | Remapped | Good | NC_000014.8:g.1027 29777_107283138del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 102,729,777 | 107,283,138 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841864 | GRCh38: NC_000014.9:g.102263440_106874929del | copy number loss | de novo | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV003327606.2, VCV002579167.1 | 1 |