nsv7096805
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,705,865
- Description:NC_000003.11:g.(?_45435946)_(49137751_?)dup AND Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 10257 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 10239 SVs from 114 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7096805 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 45,394,454 | 49,100,318 |
| nsv7096805 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 45,435,946 | 49,137,751 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790466 | duplication | Multiple | Multiple | Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome; MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA; Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | Uncertain significance | ClinVar | RCV003116297.2, VCV002425284.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790466 | Remapped | Good | NC_000003.12:g.(?_ 45394454)_(4910031 8_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 45,394,454 | 49,100,318 |
| nssv18790466 | Submitted genomic | NC_000003.11:g.(?_ 45435946)_(4913775 1_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 45,435,946 | 49,137,751 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790466 | GRCh37: NC_000003.11:g.(?_45435946)_(49137751_?)dup | duplication | germline | Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome; MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA; Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | Uncertain significance | ClinVar | RCV003116297.2, VCV002425284.3 |