nsv6314766
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:insertion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,070
- Description:fragile site, folic acid type, rare, fra(12)(q13.1) AND Intellectual disability, FRA12A type
- Publication(s):Winnepenninckx et al. 2007
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 80 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Inner Stop | Stop |
|---|---|---|---|---|---|---|---|---|
| nsv6314766 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 50,505,004 | 50,506,073 | - |
| nsv6314766 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 50,898,787 | - | 50,898,807 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976051 | insertion | Multiple | Multiple | INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE; Intellectual disability, FRA12A type; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000001021.5, VCV000000970.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Inner Stop | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv17976051 | Submitted genomic | NC_000012.12:g.505 05004_(50506073_?) ins? | GRCh38 (hg38) | NC_000012.12 | Chr12 | 50,505,004 | 50,506,073 | - |
| nssv17976051 | Submitted genomic | NC_000012.11:g.508 98787_50898807ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 50,898,787 | - | 50,898,807 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976051 | GRCh37: NC_000012.11:g.50898787_50898807ins?, GRCh38: NC_000012.12:g.50505004_(50506073_?)ins? | insertion | germline | INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE; Intellectual disability, FRA12A type; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000001021.5, VCV000000970.4 |