A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5817n100



Internal ID20157433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150777463..150933758hg38UCSC Ensembl
chr5:150157025..150313320hg19UCSC Ensembl
chr5:150137218..150293513hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38156296
hg19156296
hg18156296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021828, nsv1032890
Samples
Known GenesIRGM, SMIM3, ZNF300, ZNF300P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5817n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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