A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030202



Internal ID19119421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:108299186..108344634hg38UCSC Ensembl
Innerchr5:107634887..107680335hg19UCSC Ensembl
Innerchr5:107662786..107708234hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3845449
hg1945449
hg1845449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5775n100
Supporting Variantsnssv3646998
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)nsv1030202
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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