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dbVar

Database of genomic structural variation

nsv7094241

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:3,418,981

Description:NC_000014.8:g.(?_102442029)_(105861009_?)del AND Charcot-Marie-Tooth disease axonal type 2O

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: 14022 SVs from 109 studies. See in: genome view

Remapped(Score: Perfect):101,975,692-105,394,672

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094241	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	101,975,692	105,394,672
nsv7094241	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	102,442,029	105,861,009

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791946	deletion	Multiple	Multiple	Autosomal dominant Charcot-Marie-Tooth disease type 2O; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O; Charcot-Marie-Tooth disease, axonal, type 2O	Uncertain significance	ClinVar	RCV003107388.2, VCV002424155.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791946	Remapped	Perfect	NC_000014.9:g.(?_1 01975692)_(1053946 72_?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	101,975,692	105,394,672
nssv18791946	Submitted genomic		NC_000014.8:g.(?_1 02442029)_(1058610 09_?)del	GRCh37 (hg19)		NC_000014.8	Chr14	102,442,029	105,861,009

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
nssv18791946	GRCh37: NC_000014.8:g.(?_102442029)_(105861009_?)del	deletion	germline	Autosomal dominant Charcot-Marie-Tooth disease type 2O; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O; Charcot-Marie-Tooth disease, axonal, type 2O	Uncertain significance	ClinVar	RCV003107388.2, VCV002424155.2

No genotype data were submitted for this variant

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