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dbVar

Database of genomic structural variation

nsv5564133

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:162

Description:NC_000012.11:g.(?_22089457)_(22089618_?)del AND Dilated cardiomyopathy 1O
Publication(s):Hershberger et al. 2007

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

Remapped(Score: Perfect):21,936,523-21,936,684

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5564133	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	21,936,523	21,936,684
nsv5564133	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	22,089,457	22,089,618

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059194	deletion	Multiple	Multiple	CARDIOMYOPATHY, DILATED, 1O; CMD1O; Dilated cardiomyopathy 1O; Familial isolated dilated cardiomyopathy	Uncertain significance	ClinVar	RCV001374139.4, VCV001064199.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17059194	Remapped	Perfect	NC_000012.12:g.(?_ 21936523)_(2193668 4_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	21,936,523	21,936,684
nssv17059194	Submitted genomic		NC_000012.11:g.(?_ 22089457)_(2208961 8_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	22,089,457	22,089,618

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
nssv17059194	GRCh37: NC_000012.11:g.(?_22089457)_(22089618_?)del	deletion	germline	CARDIOMYOPATHY, DILATED, 1O; CMD1O; Dilated cardiomyopathy 1O; Familial isolated dilated cardiomyopathy	Uncertain significance	ClinVar	RCV001374139.4, VCV001064199.4

No genotype data were submitted for this variant

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