A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062405



Internal ID19151624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70117612..70247863hg38UCSC Ensembl
Innerchr16:70151515..70281766hg19UCSC Ensembl
Innerchr16:68709016..68839267hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38130252
hg19130252
hg18130252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3013n100
Supporting Variantsnssv3719018
Samples
Known GenesCLEC18C, LOC100506060, PDPR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062405
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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