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dbVar

Database of genomic structural variation

nsv3874579

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:399,208

Description:GRCh37/hg19 3p21.31(chr3:47069054-47468261)x3 AND See cases

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: 1154 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):47,027,564-47,426,771

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3874579	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	47,027,564	47,426,771
nsv3874579	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	47,069,054	47,468,261

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15153067	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000598871.2, VCV000503595.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15153067	Remapped	Perfect	NC_000003.12:g.(?_ 47027564)_(4742677 1_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	47,027,564	47,426,771
nssv15153067	Submitted genomic		NC_000003.11:g.(?_ 47069054)_(4746826 1_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	47,069,054	47,468,261

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
nssv15153067	GRCh37: NC_000003.11:g.(?_47069054)_(47468261_?)dup	copy number gain	unknown	See cases	Uncertain significance	ClinVar	RCV000598871.2, VCV000503595.2	3

No genotype data were submitted for this variant

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