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dbVar

Database of genomic structural variation

nsv3878135

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:13,421,880

Description:NC_000001.10:g.(?_33241563)_(46663513_?)dup AND Charcot-Marie-Tooth disease dominant intermediate C

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: 32902 SVs from 129 studies. See in: genome view

Remapped(Score: Good):32,775,962-46,197,841

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3878135	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	32,775,962	46,197,841
nsv3878135	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	33,241,563	46,663,513

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15154256	duplication	Multiple	Multiple	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC; Charcot-Marie-Tooth disease, dominant intermediate C	Uncertain significance	ClinVar	RCV000708276.4, VCV000584069.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15154256	Remapped	Good	NC_000001.11:g.(?_ 32775962)_(4619784 1_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	32,775,962	46,197,841
nssv15154256	Submitted genomic		NC_000001.10:g.(?_ 33241563)_(4666351 3_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	33,241,563	46,663,513

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
nssv15154256	GRCh37: NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	germline	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC; Charcot-Marie-Tooth disease, dominant intermediate C	Uncertain significance	ClinVar	RCV000708276.4, VCV000584069.4

No genotype data were submitted for this variant

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