nsv4768363
- 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:3,856
- Description:GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1 AND Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 82 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 29 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4768363 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 116,235,335 | 116,239,190 |
nsv4768363 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 116,673,140 | 116,676,995 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16296981 | copy number loss | Multiple | Multiple | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD; Mental retardation and distinctive facial features with or without cardiac defects | Pathogenic | ClinVar | RCV001265127.1, VCV000984748.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16296981 | Remapped | Perfect | NC_000012.12:g.(?_ 116235335)_(116239 190_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 116,235,335 | 116,239,190 |
nssv16296981 | Submitted genomic | NC_000012.11:g.(?_ 116673140)_(116676 995_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 116,673,140 | 116,676,995 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16296981 | GRCh37: NC_000012.11:g.(?_116673140)_(116676995_?)del | copy number loss | inherited | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD; Mental retardation and distinctive facial features with or without cardiac defects | Pathogenic | ClinVar | RCV001265127.1, VCV000984748.1 | 1 |