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dbVar

Database of genomic structural variation

nsv3872850

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:32,569

Description:GRCh37/hg19 3p21.2(chr3:51985664-52018232)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: 142 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):51,951,648-51,984,216

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3872850	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	51,951,648	51,984,216
nsv3872850	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	51,985,664	52,018,232

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15164530	copy number gain	Multiple	Multiple	not provided	Benign	ClinVar	RCV000742403.2, VCV000605767.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15164530	Remapped	Perfect	NC_000003.12:g.(?_ 51951648)_(5198421 6_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	51,951,648	51,984,216
nssv15164530	Submitted genomic		NC_000003.11:g.(?_ 51985664)_(5201823 2_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	51,985,664	52,018,232

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
nssv15164530	GRCh37: NC_000003.11:g.(?_51985664)_(52018232_?)dup	copy number gain	unknown	not provided	Benign	ClinVar	RCV000742403.2, VCV000605767.2	3

No genotype data were submitted for this variant

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