nsv7148175
- 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:13,468,015
- Description:GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 AND Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Publication(s):Mirzaa et al. 2016
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 37346 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 37333 SVs from 131 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148175 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 230,178,121 | 243,646,135 | ||
| nsv7148175 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 230,313,867 | 243,809,437 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842031 | copy number loss | Multiple | Multiple | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2; MPPH Syndrome; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003327728.3, VCV002579289.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842031 | Submitted genomic | NC_000001.11:g.230 178121_243646135de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 230,178,121 | 243,646,135 | ||
| nssv18842031 | Remapped | Good | NC_000001.10:g.230 313867_243809437de l | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 230,313,867 | 243,809,437 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18842031 | GRCh38: NC_000001.11:g.230178121_243646135del | copy number loss | de novo | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2; MPPH Syndrome; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003327728.3, VCV002579289.1 | 1 |