A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020589



Internal ID18763124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32114071..32171514hg38UCSC Ensembl
Innerchr5:32114177..32171620hg19UCSC Ensembl
Innerchr5:32149934..32207377hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3857444
hg1957444
hg1857444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5622n100
Supporting Variantsnssv3637032
Samples
Known GenesGOLPH3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020589
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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