A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050319



Internal ID18792850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14686785..14969848hg38UCSC Ensembl
Innerchr16:14780642..15063705hg19UCSC Ensembl
Innerchr16:14688143..14971206hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38283064
hg19283064
hg18283064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2738n100
Supporting Variantsnssv3557245
Samples
Known GenesABCC6P2, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, PLA2G10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050319
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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