A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648164



Internal ID18946445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149697049..149739278hg38UCSC Ensembl
Innerchr5:149076612..149118841hg19UCSC Ensembl
Innerchr5:149056805..149099034hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3842230
hg1942230
hg1842230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027896
Supporting Variants
Samples
Known GenesPPARGC1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648164
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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