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dbVar

Database of genomic structural variation

nsv6638073

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:7,708,896

Description:GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)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: 30714 SVs from 120 studies. See in: genome view

Remapped(Score: Good):43,040,841-50,749,736

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6638073	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	43,040,841	50,749,736
nsv6638073	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	43,436,847	51,188,164

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18330707	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002468433.3, VCV001803808.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18330707	Remapped	Good	NC_000022.11:g.430 40841_50749736dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	43,040,841	50,749,736
nssv18330707	Submitted genomic		NC_000022.10:g.434 36847_51188164dup	GRCh37 (hg19)		NC_000022.10	Chr22	43,436,847	51,188,164

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
nssv18330707	GRCh37: NC_000022.10:g.43436847_51188164dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV002468433.3, VCV001803808.3	3

No genotype data were submitted for this variant

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