A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2775n100



Internal ID20154391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16196385..16704794hg38UCSC Ensembl
chr16:16290242..16798651hg19UCSC Ensembl
chr16:16197743..16706152hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38508410
hg19508410
hg18508410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1054590, nsv1038812, nsv1036358, nsv1049221, nsv1047755, nsv1048969, nsv1042492
Samples
Known GenesABCC6, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2775n100
Frequency
Sample Size29084
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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