A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3001n100



Internal ID20154617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69990674..70105639hg38UCSC Ensembl
chr16:70024577..70139542hg19UCSC Ensembl
chr16:68582078..68697043hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38114966
hg19114966
hg18114966
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064331, nsv1060143
Samples
Known GenesMIR1972-1, MIR1972-2, PDXDC2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3001n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss10
Observed Complex0
Frequencyn/a


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