A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021284



Internal ID19110501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:37264173..37630086hg38UCSC Ensembl
Innerchr5:37264275..37630188hg19UCSC Ensembl
Innerchr5:37300032..37665945hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38365914
hg19365914
hg18365914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5634n100
Supporting Variantsnssv3637085
Samples
Known GenesNUP155, WDR70
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021284
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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