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dbVar

Database of genomic structural variation

nsv3903513

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:71,116

Description:GRCh37/hg19 22q13.1(chr22:39592181-39663296)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: 320 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):39,196,176-39,267,291

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3903513	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	39,196,176	39,267,291
nsv3903513	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	39,592,181	39,663,296

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15163685	copy number gain	Multiple	Multiple	not provided	Benign	ClinVar	RCV000741977.2, VCV000605341.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15163685	Remapped	Perfect	NC_000022.11:g.(?_ 39196176)_(3926729 1_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,196,176	39,267,291
nssv15163685	Submitted genomic		NC_000022.10:g.(?_ 39592181)_(3966329 6_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	39,592,181	39,663,296

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
nssv15163685	GRCh37: NC_000022.10:g.(?_39592181)_(39663296_?)dup	copy number gain	unknown	not provided	Benign	ClinVar	RCV000741977.2, VCV000605341.2	3

No genotype data were submitted for this variant

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