A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029462



Internal ID19118681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:108310120..108344634hg38UCSC Ensembl
Innerchr5:107645821..107680335hg19UCSC Ensembl
Innerchr5:107673720..107708234hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3834515
hg1934515
hg1834515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5776n100
Supporting Variantsnssv3647002
Samples
Known GenesFBXL17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029462
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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