A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023343



Internal ID18765876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149851224..149888162hg38UCSC Ensembl
Innerchr5:149230787..149267725hg19UCSC Ensembl
Innerchr5:149210980..149247918hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3836939
hg1936939
hg1836939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648165
Samples
Known GenesPDE6A, PPARGC1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023343
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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