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dbVar

Database of genomic structural variation

nsv4681940

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:559,908

Description:NC_000006.12:g.(?_64066338)_(64626245_?)del 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: 1593 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):64,066,338-64,626,245

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681940	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	64,066,338	64,626,245
nsv4681940	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	64,776,231	65,336,138

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214401	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001033161.5, VCV000832687.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214401	Remapped	Perfect	NC_000006.12:g.(?_ 64066338)_(6462624 5_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	64,066,338	64,626,245
nssv16214401	Submitted genomic		NC_000006.11:g.(?_ 64776231)_(6533613 8_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	64,776,231	65,336,138

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
nssv16214401	GRCh37: NC_000006.11:g.(?_64776231)_(65336138_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001033161.5, VCV000832687.5

No genotype data were submitted for this variant

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