nsv4683948
- 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:3,083
- Description:NM_002529.4(NTRK1):c.359+227_433del AND Hereditary insensitivity to pain with anhidrosis
- Publication(s):Indo et al. 2008, Schon et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 93 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4683948 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 156,865,026 | 156,868,108 |
| nsv4683948 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 156,834,818 | 156,837,900 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212938 | deletion | Multiple | Multiple | Congenital Insensitivity to Pain with Anhidrosis; Hereditary insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA | Likely pathogenic | ClinVar | RCV001043393.1, VCV000841216.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16212938 | Submitted genomic | NC_000001.11:g.156 865026_156868108de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 156,865,026 | 156,868,108 |
| nssv16212938 | Submitted genomic | NC_000001.10:g.156 834818_156837900de l | GRCh37 (hg19) | NC_000001.10 | Chr1 | 156,834,818 | 156,837,900 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212938 | GRCh37: NC_000001.10:g.156834818_156837900del, GRCh38: NC_000001.11:g.156865026_156868108del | deletion | germline | Congenital Insensitivity to Pain with Anhidrosis; Hereditary insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA | Likely pathogenic | ClinVar | RCV001043393.1, VCV000841216.1 |