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

dbVar

Database of genomic structural variation

nsv5380734

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:180

Description:NC_000012.11:g.(?_119631494)_(119631673_?)dup AND Charcot-Marie-Tooth disease axonal type 2L

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: 81 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):119,193,689-119,193,868

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380734	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	119,193,689	119,193,868
nsv5380734	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	119,631,494	119,631,673

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866298	duplication	Multiple	Multiple	Autosomal dominant Charcot-Marie-Tooth disease type 2L; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L; Charcot-Marie-Tooth disease, type 2L; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV001305227.1, VCV001007967.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866298	Remapped	Perfect	NC_000012.12:g.(?_ 119193689)_(119193 868_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	119,193,689	119,193,868
nssv16866298	Submitted genomic		NC_000012.11:g.(?_ 119631494)_(119631 673_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	119,631,494	119,631,673

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
nssv16866298	GRCh37: NC_000012.11:g.(?_119631494)_(119631673_?)dup	duplication	germline	Autosomal dominant Charcot-Marie-Tooth disease type 2L; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L; Charcot-Marie-Tooth disease, type 2L; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV001305227.1, VCV001007967.1

No genotype data were submitted for this variant

You are here: NCBI