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dbVar

Database of genomic structural variation

nsv6291289

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:50,181

Description:GRCh37/hg19 6p12.1(chr6:55328665-55378845)x1 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: 333 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):55,463,867-55,514,047

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6291289	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	55,463,867	55,514,047
nsv6291289	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	55,328,665	55,378,845

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17956570	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001827748.1, VCV001340308.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17956570	Remapped	Perfect	NC_000006.12:g.(?_ 55463867)_(5551404 7_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,463,867	55,514,047
nssv17956570	Submitted genomic		NC_000006.11:g.(?_ 55328665)_(5537884 5_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	55,328,665	55,378,845

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	Copy number
nssv17956570	GRCh37: NC_000006.11:g.(?_55328665)_(55378845_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV001827748.1, VCV001340308.1	1

No genotype data were submitted for this variant

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