nsv6310732
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,672
- Description:NC_000001.10:g.(?_156837886)_(156841557_?)del 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: 94 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6310732 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 156,868,094 | 156,871,765 |
| nsv6310732 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 156,837,886 | 156,841,557 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17971951 | 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 | Pathogenic | ClinVar | RCV001962965.5, VCV001455199.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17971951 | Remapped | Perfect | NC_000001.11:g.(?_ 156868094)_(156871 765_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 156,868,094 | 156,871,765 |
| nssv17971951 | Submitted genomic | NC_000001.10:g.(?_ 156837886)_(156841 557_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 156,837,886 | 156,841,557 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17971951 | GRCh37: NC_000001.10:g.(?_156837886)_(156841557_?)del | 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 | Pathogenic | ClinVar | RCV001962965.5, VCV001455199.5 |