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dbVar

Database of genomic structural variation

nsv7093974

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:52,775

Description:NC_000012.11:g.(?_52708415)_(52761189_?)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: 426 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):52,314,631-52,367,405

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093974	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	52,314,631	52,367,405
nsv7093974	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	52,708,415	52,761,189

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792119	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003107616.2, VCV002424383.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792119	Remapped	Perfect	NC_000012.12:g.(?_ 52314631)_(5236740 5_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	52,314,631	52,367,405
nssv18792119	Submitted genomic		NC_000012.11:g.(?_ 52708415)_(5276118 9_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	52,708,415	52,761,189

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
nssv18792119	GRCh37: NC_000012.11:g.(?_52708415)_(52761189_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003107616.2, VCV002424383.2

No genotype data were submitted for this variant

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