A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056030



Internal ID18798561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89067685..89301090hg38UCSC Ensembl
Innerchr16:89134093..89367498hg19UCSC Ensembl
Innerchr16:87661594..87894999hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38233406
hg19233406
hg18233406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3066n100
Supporting Variantsnssv3560001
Samples
Known GenesACSF3, ANKRD11, CDH15, LINC00304, LOC400558, SLC22A31, ZNF778
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056030
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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