A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057982



Internal ID18800513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69954471..70076131hg38UCSC Ensembl
Innerchr16:69988374..70110034hg19UCSC Ensembl
Innerchr16:68545875..68667535hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38121661
hg19121661
hg18121661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2999n100
Supporting Variantsnssv3559447
Samples
Known GenesCLEC18A, MIR1972-1, MIR1972-2, PDXDC2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057982
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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