A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5102n100



Internal ID22791189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9368964..9560119hg38UCSC Ensembl
chr4:9370690..9561739hg19UCSC Ensembl
chr4:8979788..9170837hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38191156
hg19191050
hg18191050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012598, nsv1012190, nsv1001604
Samples
Known GenesDEFB131, LOC650293, MIR548I2, USP17L6P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5102n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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