A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2984n100



Internal ID20154600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55555463..55621512hg38UCSC Ensembl
chr16:55589375..55655424hg19UCSC Ensembl
chr16:54146876..54212925hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3866050
hg1966050
hg1866050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057132, nsv1055829
Samples
Known GenesCAPNS2, LPCAT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2984n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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