A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3633230



Internal ID18931511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:625176..809679hg38UCSC Ensembl
Innerchr5:625291..809794hg19UCSC Ensembl
Innerchr5:678291..862794hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38184504
hg19184504
hg18184504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026685
Supporting Variants
Samples
Known GenesCEP72, TPPP, ZDHHC11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3633230
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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