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dbVar

Database of genomic structural variation

nsv6311797

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:253,958

Description:NC_000003.11:g.(?_50431520)_(50685477_?)dup AND not provided

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: 503 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):50,394,089-50,648,046

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311797	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	50,394,089	50,648,046
nsv6311797	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	50,431,520	50,685,477

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971863	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001959795.3, VCV001432141.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971863	Remapped	Perfect	NC_000003.12:g.(?_ 50394089)_(5064804 6_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	50,394,089	50,648,046
nssv17971863	Submitted genomic		NC_000003.11:g.(?_ 50431520)_(5068547 7_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	50,431,520	50,685,477

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
nssv17971863	GRCh37: NC_000003.11:g.(?_50431520)_(50685477_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001959795.3, VCV001432141.3

No genotype data were submitted for this variant

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