A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3050n100



Internal ID22789137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82131709..82181783hg38UCSC Ensembl
chr16:82165314..82215388hg19UCSC Ensembl
chr16:80722815..80772889hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3850075
hg1950075
hg1850075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062687, nsv1056381, nsv1061064
Samples
Known GenesMPHOSPH6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3050n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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