A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2786n100



Internal ID20154402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18545386..18780530hg38UCSC Ensembl
chr16:18556708..18791852hg19UCSC Ensembl
chr16:18464209..18699353hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38235145
hg19235145
hg18235145
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042569, nsv1040394, nsv1043626
Samples
Known GenesABCC6P1, NOMO2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2786n100
Frequency
Sample Size29084
Observed Gain23
Observed Loss6
Observed Complex0
Frequencyn/a


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