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dbVar

Database of genomic structural variation

nsv6309310

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:498,944

Description:
See descriptions for individual calls in download files
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: 1416 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):21,437,731-21,936,674

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309310	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	21,437,731	21,936,674
nsv6309310	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	21,590,665	22,089,608

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970639	deletion	Multiple	Multiple	CARDIOMYOPATHY, DILATED, 1O; CMD1O; Dilated cardiomyopathy 1O; Familial isolated dilated cardiomyopathy	Uncertain significance	ClinVar	RCV001920617.2, VCV001411401.2
nssv17971623	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001958183.1, VCV001445073.1
nssv17971624	duplication	Multiple	Multiple	CARDIOMYOPATHY, DILATED, 1O; CMD1O; Dilated cardiomyopathy 1O; Familial isolated dilated cardiomyopathy	Uncertain significance	ClinVar	RCV001958184.1, VCV001445073.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970639	Remapped	Perfect	NC_000012.12:g.(?_ 21437731)_(2193667 4_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	21,437,731	21,936,674
nssv17971623	Remapped	Perfect	NC_000012.12:g.(?_ 21437731)_(2193667 4_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	21,437,731	21,936,674
nssv17971624	Remapped	Perfect	NC_000012.12:g.(?_ 21437731)_(2193667 4_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	21,437,731	21,936,674
nssv17970639	Submitted genomic		NC_000012.11:g.(?_ 21590665)_(2208960 8_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	21,590,665	22,089,608
nssv17971623	Submitted genomic		NC_000012.11:g.(?_ 21590665)_(2208960 8_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	21,590,665	22,089,608
nssv17971624	Submitted genomic		NC_000012.11:g.(?_ 21590665)_(2208960 8_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	21,590,665	22,089,608

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
nssv17970639	GRCh37: NC_000012.11:g.(?_21590665)_(22089608_?)del	deletion	germline	CARDIOMYOPATHY, DILATED, 1O; CMD1O; Dilated cardiomyopathy 1O; Familial isolated dilated cardiomyopathy	Uncertain significance	ClinVar	RCV001920617.2, VCV001411401.2
nssv17971623	GRCh37: NC_000012.11:g.(?_21590665)_(22089608_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001958183.1, VCV001445073.1
nssv17971624	GRCh37: NC_000012.11:g.(?_21590665)_(22089608_?)dup	duplication	germline	CARDIOMYOPATHY, DILATED, 1O; CMD1O; Dilated cardiomyopathy 1O; Familial isolated dilated cardiomyopathy	Uncertain significance	ClinVar	RCV001958184.1, VCV001445073.1

No genotype data were submitted for this variant

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