A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2979n100



Internal ID20154595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53210111..53272876hg38UCSC Ensembl
chr16:53244023..53306788hg19UCSC Ensembl
chr16:51801524..51864289hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3862766
hg1962766
hg1862766
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060106, nsv1055220
Samples
Known GenesCHD9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2979n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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