nsv7148229
- 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:40,058,566
- Description:GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)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: 118235 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 118295 SVs from 141 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148229 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 2,904,667 | 42,963,232 | ||
| nsv7148229 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 2,906,394 | 42,965,249 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841858 | copy number gain | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV003327612.1, VCV002579173.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841858 | Submitted genomic | NC_000004.12:g.290 4667_42963232dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 2,904,667 | 42,963,232 | ||
| nssv18841858 | Remapped | Good | NC_000004.11:g.290 6394_42965249dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 2,906,394 | 42,965,249 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841858 | GRCh38: NC_000004.12:g.2904667_42963232dup | copy number gain | de novo | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV003327612.1, VCV002579173.1 | 3 |