A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598218



Internal ID16385627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56951343..56952278hg38UCSC Ensembl
Innerchr5:56247170..56248105hg19UCSC Ensembl
Innerchr5:56282927..56283862hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38936
hg19936
hg18936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9794n54
Supporting Variantsnssv1030800, nssv1030797, nssv1030799, nssv1030798
Samples
Known GenesMIER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598218
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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