A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528219



Internal ID15455512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177687196..177702423hg38UCSC Ensembl
Innerchr2:178551924..178567151hg19UCSC Ensembl
Innerchr2:178260170..178275397hg18UCSC Ensembl
Innerchr2:178377431..178392658hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3815228
hg1915228
hg1815228
hg1715228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704780
Samples
Known GenesPDE11A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528219
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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