A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5705n100



Internal ID20157321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80541430..80584622hg38UCSC Ensembl
chr5:79837249..79880441hg19UCSC Ensembl
chr5:79873005..79916197hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3843193
hg1943193
hg1843193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1027183, nsv1021286, nsv1025796, nsv1021853, nsv1034384
Samples
Known GenesANKRD34B, FAM151B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5705n100
Frequency
Sample Size29084
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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