nsv7148161
- 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:49,062,177
- Description:GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 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: 147758 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 145203 SVs from 142 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148161 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 1 | 49,062,177 | ||
| nsv7148161 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 507,005 | 49,064,194 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841857 | copy number gain | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV003327611.1, VCV002579172.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841857 | Submitted genomic | NC_000004.12:g.1_4 9062177dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 1 | 49,062,177 | ||
| nssv18841857 | Remapped | Good | NC_000004.11:g.507 005_49064194dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 507,005 | 49,064,194 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841857 | GRCh38: NC_000004.12:g.1_49062177dup | copy number gain | de novo | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV003327611.1, VCV002579172.1 | 3 |