A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5507n100



Internal ID20157123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:189870388..190052393hg38UCSC Ensembl
chr4:190791543..190973548hg19UCSC Ensembl
chr4:191028537..191210542hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38182006
hg19182006
hg18182006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1026175, nsv1029979
Samples
Known GenesFRG1, FRG2, LOC100288255, LOC283788
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5507n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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