A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030589



Internal ID18773120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180947484..181006264hg38UCSC Ensembl
Innerchr5:180374484..180433264hg19UCSC Ensembl
Innerchr5:180307090..180365870hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3858781
hg1958781
hg1858781
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5853n100
Supporting Variantsnssv3650246, nssv3650247, nssv3650242, nssv3650248, nssv3650252, nssv3650244, nssv3650249, nssv3650255, nssv3650250, nssv3650243, nssv3650251, nssv3650245, nssv3650240, nssv3650254, nssv3650241, nssv3650253
Samples
Known GenesBTNL3, BTNL8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030589
Frequency
Sample Size29084
Observed Gain15
Observed Loss1
Observed Complex0
Frequencyn/a


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