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dbVar

Database of genomic structural variation

nsv3910535

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:111,109

Description:NCBI36/hg18 18q23(chr18:75976203-76067297)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: 705 SVs from 61 studies. See in: genome view

Remapped(Score: Good):80,113,004-80,224,112

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3910535	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	80,113,004	80,113,004	80,224,112	80,224,112
nsv3910535	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	77,870,887	77,870,887	77,981,995	77,981,995
nsv3910535	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000018.8	Chr18	75,971,875	75,976,203	76,067,297	76,082,986

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125506	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000450517.2, VCV000400494.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15125506	Remapped	Good	NC_000018.10:g.(80 113004_80113004)_( 80224112_80224112) dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	80,113,004	80,113,004	80,224,112	80,224,112
nssv15125506	Remapped	Good	NC_000018.9:g.(778 70887_77870887)_(7 7981995_77981995)d up	GRCh37.p13	First Pass	NC_000018.9	Chr18	77,870,887	77,870,887	77,981,995	77,981,995
nssv15125506	Submitted genomic		NC_000018.8:g.(759 71875_75976203)_(7 6067297_76082986)d up	NCBI36 (hg18)		NC_000018.8	Chr18	75,971,875	75,976,203	76,067,297	76,082,986

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
nssv15125506	NCBI36: NC_000018.8:g.(75971875_75976203)_(76067297_76082986)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000450517.2, VCV000400494.2	3

No genotype data were submitted for this variant

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