A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2785n100



Internal ID20154401
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044932, nsv1037247, nsv1051884, nsv1039571, nsv1053541, nsv1045018
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)dgv2785n100
Frequency
Sample Size29084
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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