A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022830



Internal ID18765364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53231175..54453241hg38UCSC Ensembl
Innerchr5:52527005..53749071hg19UCSC Ensembl
Innerchr5:52562762..53784828hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381222067
hg191222067
hg181222067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5666n100
Supporting Variantsnssv3642128
Samples
Known GenesARL15, FST, MIR581, NDUFS4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022830
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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