nsv7093572
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:9,549
- Description:NM_001282531.3(ADNP):c.-89-3923_201+2793inv AND Intellectual disability
- Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 106 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 24 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv7093572 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 50,899,224 | 50,908,772 |
nsv7093572 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 49,515,761 | 49,525,309 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18786387 | inversion | Multiple | Multiple | Intellectual Disability; Intellectual disability; Intellectual disability | Likely pathogenic | ClinVar | RCV002512427.2, VCV001879783.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv18786387 | Submitted genomic | NC_000020.11:g.508 99224_50908772inv9 549 | GRCh38 (hg38) | NC_000020.11 | Chr20 | 50,899,224 | 50,908,772 |
nssv18786387 | Submitted genomic | NC_000020.10:g.495 15761_49525309inv9 549 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 49,515,761 | 49,525,309 |
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 |
---|---|---|---|---|---|---|---|
nssv18786387 | GRCh37: NC_000020.10:g.49515761_49525309inv9549, GRCh38: NC_000020.11:g.50899224_50908772inv9549 | inversion | de novo | Intellectual Disability; Intellectual disability; Intellectual disability | Likely pathogenic | ClinVar | RCV002512427.2, VCV001879783.2 |