A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4924n54



Internal ID18997100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:15386022..18071186hg38UCSC Ensembl
chr16:15479879..18165043hg19UCSC Ensembl
chr16:15387380..18072544hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382685165
hg192685165
hg182685165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571534, nsv571535
Samples
Known GenesABCC1, ABCC6, C16orf45, FOPNL, KIAA0430, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR484, MIR6506, MIR6511A-2, MIR6770-2, MPV17L, MYH11, NDE1, NOMO3, NPIPA7, NPIPA8, PKD1P1, XYLT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4924n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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