nsv7098694
- 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:65,634
- Description:GRCh38/hg38 7q35(chr7:146774271-146839904)x1 AND Cortical dysplasia-focal epilepsy syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 312 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 312 SVs from 57 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv7098694 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 146,774,271 | 146,839,904 | ||
nsv7098694 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 146,471,363 | 146,536,996 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18788172 | copy number loss | Multiple | Multiple | PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 1 | Pathogenic | ClinVar | RCV003126318.2, VCV002429381.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18788172 | Submitted genomic | NC_000007.14:g.(14 6774271_?)_(?_1468 39904)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 146,774,271 | 146,839,904 | ||
nssv18788172 | Remapped | Perfect | NC_000007.13:g.(14 6471363_?)_(?_1465 36996)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,471,363 | 146,536,996 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18788172 | GRCh38: NC_000007.14:g.(146774271_?)_(?_146839904)del | copy number loss | biparental | PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 1 | Pathogenic | ClinVar | RCV003126318.2, VCV002429381.2 | 1 |