A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5494n100



Internal ID20157110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186323525..186613274hg38UCSC Ensembl
chr4:187244679..187534428hg19UCSC Ensembl
chr4:187481673..187771422hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38289750
hg19289750
hg18289750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1023052, nsv1016739
Samples
Known GenesF11-AS1, FAT1, MTNR1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5494n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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