A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5620n100



Internal ID20157236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32081305..32158337hg38UCSC Ensembl
chr5:32081411..32158443hg19UCSC Ensembl
chr5:32117168..32194200hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3877033
hg1977033
hg1877033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1028009, nsv1033906, nsv1018907
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)dgv5620n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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