A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061380



Internal ID18803911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69990674..70146310hg38UCSC Ensembl
Innerchr16:70024577..70180213hg19UCSC Ensembl
Innerchr16:68582078..68737714hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38155637
hg19155637
hg18155637
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3005n100
Supporting Variantsnssv3559469, nssv3722733, nssv3559470, nssv3559471
Samples
Known GenesMIR1972-1, 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)nsv1061380
Frequency
Sample Size29084
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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