A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528407



Internal ID15109014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218822874..218833281hg38UCSC Ensembl
Innerchr2:219687597..219698004hg19UCSC Ensembl
Innerchr2:219395841..219406248hg18UCSC Ensembl
Innerchr2:219513102..219523509hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3810408
hg1910408
hg1810408
hg1710408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704999
Samples
Known GenesPRKAG3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528407
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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