A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8730n54



Internal ID22776625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172604186..172680078hg38UCSC Ensembl
chr3:172321976..172397868hg19UCSC Ensembl
chr3:173804670..173880562hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3875893
hg1975893
hg1875893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592518, nsv592519
SamplesHGDP01056, HGDP01052, HGDP01048, HGDP01040, HGDP01037, HGDP01061, HGDP01038
Known GenesNCEH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8730n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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