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dbVar

Database of genomic structural variation

nsv6309688

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:45,638

Description:NC_000014.8:g.(?_105167703)_(105213340_?)dup AND multiple conditions

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: 330 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):104,701,366-104,747,003

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309688	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	104,701,366	104,747,003
nsv6309688	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	105,167,703	105,213,340

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973383	duplication	Multiple	Multiple	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E; CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE; Charcot-Marie-Tooth disease dominant intermediate E; FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5; Focal segmental glomerulosclerosis 5; Genetic steroid-resistant nephrotic syndrome	Uncertain significance	ClinVar	RCV002014693.1, VCV001450164.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973383	Remapped	Perfect	NC_000014.9:g.(?_1 04701366)_(1047470 03_?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	104,701,366	104,747,003
nssv17973383	Submitted genomic		NC_000014.8:g.(?_1 05167703)_(1052133 40_?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	105,167,703	105,213,340

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
nssv17973383	GRCh37: NC_000014.8:g.(?_105167703)_(105213340_?)dup	duplication	germline	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E; CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE; Charcot-Marie-Tooth disease dominant intermediate E; FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5; Focal segmental glomerulosclerosis 5; Genetic steroid-resistant nephrotic syndrome	Uncertain significance	ClinVar	RCV002014693.1, VCV001450164.1

No genotype data were submitted for this variant

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