A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5509n100



Internal ID22791596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:189933290..190098983hg38UCSC Ensembl
chr4:190854445..191020138hg19UCSC Ensembl
chr4:191091439..191254119hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38165694
hg19165694
hg18162681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017602, nsv1020422, nsv1030134, nsv1027328, nsv1034646, nsv1020856, nsv1018216
Samples
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, FRG1, FRG2, LOC100288255, LOC100653046, LOC283788
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5509n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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