A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056685



Internal ID18799216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69943494..70164481hg38UCSC Ensembl
Innerchr16:69977397..70198384hg19UCSC Ensembl
Innerchr16:68534898..68755885hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38220988
hg19220988
hg18220988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2998n100
Supporting Variantsnssv3559446
Samples
Known GenesCLEC18A, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056685
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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