A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028227



Internal ID19117445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:101659803..101949666hg38UCSC Ensembl
Innerchr5:100995507..101285370hg19UCSC Ensembl
Innerchr5:101023406..101313269hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38289864
hg19289864
hg18289864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5742n100
Supporting Variantsnssv3645830, nssv3748297
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028227
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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