A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5493n100



Internal ID20157109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185446588..185605031hg38UCSC Ensembl
chr4:186367742..186526185hg19UCSC Ensembl
chr4:186604736..186763179hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38158444
hg19158444
hg18158444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1028694, nsv1018569, nsv1023365, nsv1029230, nsv1031570
Samples
Known GenesC4orf47, CCDC110, PDLIM3, SORBS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5493n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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