A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058420



Internal ID19147639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70117612..70220744hg38UCSC Ensembl
Innerchr16:70151515..70254647hg19UCSC Ensembl
Innerchr16:68709016..68812148hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38103133
hg19103133
hg18103133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3013n100
Supporting Variantsnssv3719014, nssv3559540
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)nsv1058420
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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