A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5664n100



Internal ID20157280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50159790..50412624hg38UCSC Ensembl
chr5:49455624..49708458hg19UCSC Ensembl
chr5:49491381..49744215hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38252835
hg19252835
hg18252835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1023402, nsv1019539
Samples
Known GenesEMB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5664n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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