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dbVar

Database of genomic structural variation

nsv5381204

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:746

Description:NC_000001.10:g.(?_115828681)_(115829426_?)dup AND Congenital sensory neuropathy with selective loss of small myelinated fibers
Publication(s):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: 101 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):115,286,060-115,286,805

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381204	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	115,286,060	115,286,805
nsv5381204	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	115,828,681	115,829,426

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866769	duplication	Multiple	Multiple	Congenital sensory neuropathy with selective loss of small myelinated fibers; Hereditary sensory and autonomic neuropathy type 5; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5	Uncertain significance	ClinVar	RCV001319453.1, VCV001019949.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866769	Remapped	Perfect	NC_000001.11:g.(?_ 115286060)_(115286 805_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	115,286,060	115,286,805
nssv16866769	Submitted genomic		NC_000001.10:g.(?_ 115828681)_(115829 426_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	115,828,681	115,829,426

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
nssv16866769	GRCh37: NC_000001.10:g.(?_115828681)_(115829426_?)dup	duplication	germline	Congenital sensory neuropathy with selective loss of small myelinated fibers; Hereditary sensory and autonomic neuropathy type 5; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5	Uncertain significance	ClinVar	RCV001319453.1, VCV001019949.1

No genotype data were submitted for this variant

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