A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029630



Internal ID18772161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111081735..111107582hg38UCSC Ensembl
Innerchr5:110417433..110443281hg19UCSC Ensembl
Innerchr5:110445332..110471180hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3825848
hg1925849
hg1825849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5781n100
Supporting Variantsnssv3746572, nssv3746573
Samples
Known GenesWDR36
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029630
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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