A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598217



Internal ID16385626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56951343..56952002hg38UCSC Ensembl
Innerchr5:56247170..56247829hg19UCSC Ensembl
Innerchr5:56282927..56283586hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38660
hg19660
hg18660
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9793n54
Supporting Variantsnssv1030794, nssv1030795, nssv1030796
Samples
Known GenesMIER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598217
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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