A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027833



Internal ID18770364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180951876..181015429hg38UCSC Ensembl
Innerchr5:180378876..180442429hg19UCSC Ensembl
Innerchr5:180311482..180375035hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3863554
hg1963554
hg1863554
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5853n100
Supporting Variantsnssv3650285, nssv3650286, nssv3650287, nssv3650283, nssv3746719, nssv3650284
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)nsv1027833
Frequency
Sample Size29084
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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