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dbVar

Database of genomic structural variation

nsv3902592

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:8,730

Description:GRCh37/hg19 22q13.1(chr22:38213383-38222112)x3 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: 91 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):37,817,376-37,826,105

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3902592	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	37,817,376	37,826,105
nsv3902592	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	38,213,383	38,222,112

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15163681	copy number gain	Multiple	Multiple	not provided	Benign	ClinVar	RCV000741962.2, VCV000605326.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15163681	Remapped	Perfect	NC_000022.11:g.(?_ 37817376)_(3782610 5_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,376	37,826,105
nssv15163681	Submitted genomic		NC_000022.10:g.(?_ 38213383)_(3822211 2_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,383	38,222,112

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
nssv15163681	GRCh37: NC_000022.10:g.(?_38213383)_(38222112_?)dup	copy number gain	unknown	not provided	Benign	ClinVar	RCV000741962.2, VCV000605326.2	3

No genotype data were submitted for this variant

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