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dbVar

Database of genomic structural variation

nsv6312056

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:50,683

Description:
See descriptions for individual calls in download files

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: 230 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):64,388,680-64,439,362

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312056	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	64,388,680	64,439,362
nsv6312056	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	65,098,573	65,149,255

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17972022	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001963178.5, VCV001459847.5
nssv18791667	duplication	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV003105569.1, VCV002423875.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17972022	Remapped	Perfect	NC_000006.12:g.(?_ 64388680)_(6443936 2_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	64,388,680	64,439,362
nssv18791667	Remapped	Perfect	NC_000006.12:g.(?_ 64388680)_(6443936 2_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	64,388,680	64,439,362
nssv17972022	Submitted genomic		NC_000006.11:g.(?_ 65098573)_(6514925 5_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	65,098,573	65,149,255
nssv18791667	Submitted genomic		NC_000006.11:g.(?_ 65098573)_(6514925 5_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	65,098,573	65,149,255

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
nssv17972022	GRCh37: NC_000006.11:g.(?_65098573)_(65149255_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001963178.5, VCV001459847.5
nssv18791667	GRCh37: NC_000006.11:g.(?_65098573)_(65149255_?)dup	duplication	germline	not provided	Likely pathogenic	ClinVar	RCV003105569.1, VCV002423875.2

No genotype data were submitted for this variant

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