A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064289



Internal ID18806820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:46429858..46768065hg38UCSC Ensembl
Innerchr16:46463770..46801977hg19UCSC Ensembl
Innerchr16:45021271..45359478hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38338208
hg19338208
hg18338208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2975n100
Supporting Variantsnssv3559242
Samples
Known GenesANKRD26P1, MYLK3, ORC6, SHCBP1, VPS35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064289
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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