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dbVar

Database of genomic structural variation

nsv5381062

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:92

Description:NC_000001.10:g.(?_156834510)_(156834601_?)del AND Hereditary insensitivity to pain with anhidrosis
Publication(s):Indo et al. 2008, Schon et al. 2018

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 90 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):156,864,718-156,864,809

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381062	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	156,864,718	156,864,809
nsv5381062	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	156,834,510	156,834,601

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867200	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	Uncertain significance	ClinVar	RCV001343469.2, VCV001039910.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867200	Remapped	Perfect	NC_000001.11:g.(?_ 156864718)_(156864 809_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	156,864,718	156,864,809
nssv16867200	Submitted genomic		NC_000001.10:g.(?_ 156834510)_(156834 601_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	156,834,510	156,834,601

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
nssv16867200	GRCh37: NC_000001.10:g.(?_156834510)_(156834601_?)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	Uncertain significance	ClinVar	RCV001343469.2, VCV001039910.2

No genotype data were submitted for this variant

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