A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050193



Internal ID18792724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:10765..64537hg38UCSC Ensembl
Innerchr16:60765..114535hg19UCSC Ensembl
Innerchr16:765..54535hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3853773
hg1953771
hg1853771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2688n100
Supporting Variantsnssv3556928
Samples
Known GenesDDX11L10, LOC100288778, MIR6859-1, MIR6859-2, POLR3K, RHBDF1, SNRNP25
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050193
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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