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dbVar

Database of genomic structural variation

nsv3972167

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:291,486

Description:GRCh37/hg19 2p22.3(chr2:32514528-32806011)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: 972 SVs from 69 studies. See in: genome view

Remapped(Score: Good):32,289,459-32,580,944

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3972167	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	32,289,459	32,580,944
nsv3972167	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	32,514,528	32,806,011

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15223227	copy number gain	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV000762772.3, VCV000624541.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15223227	Remapped	Good	NC_000002.12:g.(?_ 32289459)_(3258094 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	32,289,459	32,580,944
nssv15223227	Submitted genomic		NC_000002.11:g.(?_ 32514528)_(3280601 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	32,514,528	32,806,011

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
nssv15223227	GRCh37: NC_000002.11:g.(?_32514528)_(32806011_?)dup	copy number gain	germline	not provided	Likely benign	ClinVar	RCV000762772.3, VCV000624541.3	3

No genotype data were submitted for this variant

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