A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5210n100



Internal ID20156826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54574777..54662284hg38UCSC Ensembl
chr4:55440944..55528450hg19UCSC Ensembl
chr4:55135701..55223207hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3887508
hg1987507
hg1887507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003671, nsv1004488, nsv1010702, nsv1009708
Samples
Known GenesKIT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5210n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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