A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3002n100



Internal ID20154618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69990674..70117645hg38UCSC Ensembl
chr16:70024577..70151548hg19UCSC Ensembl
chr16:68582078..68709049hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38126972
hg19126972
hg18126972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065849, nsv1066776, nsv1063955, nsv1061070
Samples
Known GenesMIR1972-1, MIR1972-2, PDPR, PDXDC2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3002n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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