A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061740



Internal ID18804271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83519838..83940461hg38UCSC Ensembl
Innerchr16:83553443..83974066hg19UCSC Ensembl
Innerchr16:82110944..82531567hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38420624
hg19420624
hg18420624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3054n100
Supporting Variantsnssv3559934
Samples
Known GenesCDH13, HSBP1, MLYCD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061740
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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