nsv7148234
- 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:20,612,537
- Description:GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)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: 74143 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 73928 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148234 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 138,620,939 | 159,233,475 | ||
| nsv7148234 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 138,305,684 | 159,026,165 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841856 | copy number gain | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Likely pathogenic | ClinVar | RCV003327610.1, VCV002579171.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841856 | Submitted genomic | NC_000007.14:g.138 620939_159233475du p | GRCh38 (hg38) | NC_000007.14 | Chr7 | 138,620,939 | 159,233,475 | ||
| nssv18841856 | Remapped | Good | NC_000007.13:g.138 305684_159026165du p | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 138,305,684 | 159,026,165 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841856 | GRCh38: NC_000007.14:g.138620939_159233475dup | copy number gain | de novo | Neurodevelopmental Disorders; Neurodevelopmental disorder | Likely pathogenic | ClinVar | RCV003327610.1, VCV002579171.1 | 3 |