nsv3874415
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:104,108
- Description:Single allele AND Intellectual disability, autosomal recessive 7
- Publication(s):Sparks et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 493 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 493 SVs from 72 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3874415 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 15,570,188 | 15,674,295 |
| nsv3874415 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 15,427,697 | 15,531,804 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131115 | deletion | Multiple | Multiple | Autosomal recessive non syndromic intellectual disability; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7; Mental retardation, autosomal recessive 7; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000678015.2, VCV000560138.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15131115 | Submitted genomic | NC_000008.11:g.155 70188_15674295del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 15,570,188 | 15,674,295 |
| nssv15131115 | Submitted genomic | NC_000008.10:g.154 27697_15531804del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 15,427,697 | 15,531,804 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131115 | GRCh37: NC_000008.10:g.15427697_15531804del, GRCh38: NC_000008.11:g.15570188_15674295del | deletion | maternal | Autosomal recessive non syndromic intellectual disability; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7; Mental retardation, autosomal recessive 7; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000678015.2, VCV000560138.2 | 0 |