A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3633205



Internal ID18931486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:51340..185383hg38UCSC Ensembl
Innerchr5:51455..185498hg19UCSC Ensembl
Innerchr5:104455..238498hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38134044
hg19134044
hg18134044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022258
Supporting Variants
Samples
Known GenesPLEKHG4B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3633205
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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