A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026060



Internal ID18768592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180951876..181019378hg38UCSC Ensembl
Innerchr5:180378876..180446378hg19UCSC Ensembl
Innerchr5:180311482..180378984hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3867503
hg1967503
hg1867503
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5853n100
Supporting Variantsnssv3650306, nssv3746745
Samples
Known GenesBTNL3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026060
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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