Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv7096744

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:14,443

Description:NC_000005.9:g.(?_10250453)_(10264895_?)del AND Hereditary sensory and autonomic neuropathy with spastic paraplegia

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: 179 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):10,250,341-10,264,783

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096744	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	10,250,341	10,264,783
nsv7096744	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	10,250,453	10,264,895

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788720	deletion	Multiple	Multiple	Mutilating hereditary sensory neuropathy with spastic paraplegia; NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE; Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	Uncertain significance	ClinVar	RCV003109680.2, VCV002425756.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788720	Remapped	Perfect	NC_000005.10:g.(?_ 10250341)_(1026478 3_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	10,250,341	10,264,783
nssv18788720	Submitted genomic		NC_000005.9:g.(?_1 0250453)_(10264895 _?)del	GRCh37 (hg19)		NC_000005.9	Chr5	10,250,453	10,264,895

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
nssv18788720	GRCh37: NC_000005.9:g.(?_10250453)_(10264895_?)del	deletion	germline	Mutilating hereditary sensory neuropathy with spastic paraplegia; NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE; Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	Uncertain significance	ClinVar	RCV003109680.2, VCV002425756.2

No genotype data were submitted for this variant

You are here: NCBI