A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3636830



Internal ID18588425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32102613..32171514hg38UCSC Ensembl
Innerchr5:32102719..32171620hg19UCSC Ensembl
Innerchr5:32138476..32207377hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3868902
hg1968902
hg1868902
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024164
Supporting Variants
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3636830
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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