A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5515n100



Internal ID22791602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:15520..185383hg38UCSC Ensembl
chr5:15520..185498hg19UCSC Ensembl
chr5:68520..238498hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38169864
hg19169979
hg18169979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1027531, nsv1029784, nsv1032139, nsv1029724, nsv1015895, nsv1016394, nsv1019123, nsv1029074, nsv1022258
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)dgv5515n100
Frequency
Sample Size11257
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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