A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698069



Internal ID15088035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40807297..40827379hg38UCSC Ensembl
Innerchr19:41313202..41333284hg19UCSC Ensembl
Innerchr19:46005042..46025124hg18UCSC Ensembl
Innerchr19:46005042..46025124hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3820083
hg1920083
hg1820083
hg1720083
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521459
Supporting Variants
Samples
Known GenesEGLN2, RAB4B-EGLN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698069
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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