nsv4716438
- 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:7,396
- Description:NM_001163435.3(TBCK):c.2060-6793_2235+427del AND Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 187 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4716438 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 106,170,668 | 106,178,063 |
| nsv4716438 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 107,091,825 | 107,099,220 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16252250 | deletion | Multiple | Multiple | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3; Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | Pathogenic | ClinVar | RCV001255964.2, VCV000978028.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16252250 | Submitted genomic | NC_000004.12:g.106 170668_106178063de l | GRCh38 (hg38) | NC_000004.12 | Chr4 | 106,170,668 | 106,178,063 |
| nssv16252250 | Submitted genomic | NC_000004.11:g.107 091825_107099220de l | GRCh37 (hg19) | NC_000004.11 | Chr4 | 107,091,825 | 107,099,220 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16252250 | GRCh37: NC_000004.11:g.107091825_107099220del, GRCh38: NC_000004.12:g.106170668_106178063del | deletion | inherited | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3; Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | Pathogenic | ClinVar | RCV001255964.2, VCV000978028.2 |