A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5953n100



Internal ID20157569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34514510..34550080hg38UCSC Ensembl
chr6:34482287..34517857hg19UCSC Ensembl
chr6:34590265..34625835hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3835571
hg1935571
hg1835571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1022555, nsv1033325
Samples
Known GenesPACSIN1, SPDEF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5953n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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