A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2983n100



Internal ID20154599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55514410..55542249hg38UCSC Ensembl
chr16:55548322..55576161hg19UCSC Ensembl
chr16:54105823..54133662hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3827840
hg1927840
hg1827840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063684, nsv1066766
Samples
Known GenesLPCAT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2983n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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