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dbVar

Database of genomic structural variation

nsv3871156

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:23,000

Description:GRCh37/hg19 2p22.2(chr2:38280021-38303019)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: 181 SVs from 31 studies. See in: genome view

Remapped(Score: Good):38,052,878-38,075,877

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3871156	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	38,052,878	38,075,877
nsv3871156	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	38,280,021	38,303,019

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15174688	copy number gain	Multiple	Multiple	not provided	Benign	ClinVar	RCV000752905.2, VCV000616269.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15174688	Remapped	Good	NC_000002.12:g.(?_ 38052878)_(3807587 7_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,052,878	38,075,877
nssv15174688	Submitted genomic		NC_000002.11:g.(?_ 38280021)_(3830301 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,280,021	38,303,019

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
nssv15174688	GRCh37: NC_000002.11:g.(?_38280021)_(38303019_?)dup	copy number gain	unknown	not provided	Benign	ClinVar	RCV000752905.2, VCV000616269.2	3

No genotype data were submitted for this variant

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