A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522991



Internal ID15450284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236215849..236250146hg38UCSC Ensembl
Innerchr1:236379149..236413446hg19UCSC Ensembl
Innerchr1:234445772..234480069hg18UCSC Ensembl
Innerchr1:232705190..232739487hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3834298
hg1934298
hg1834298
hg1734298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698661
Samples
Known GenesERO1LB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522991
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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