A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018396



Internal ID19107613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:108299186..108348749hg38UCSC Ensembl
Innerchr5:107634887..107684450hg19UCSC Ensembl
Innerchr5:107662786..107712349hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3849564
hg1949564
hg1849564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5775n100
Supporting Variantsnssv3647000, nssv3646999
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)nsv1018396
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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