A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5849n100



Internal ID20157465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180653795..180801163hg38UCSC Ensembl
chr5:180080795..180228163hg19UCSC Ensembl
chr5:180013401..180160769hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38147369
hg19147369
hg18147369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1028106, nsv1024855, nsv1024943, nsv1015640, nsv1031928, nsv1025379, nsv1030370
Samples
Known GenesMGAT1, OR2Y1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5849n100
Frequency
Sample Size29084
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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