A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598225



Internal ID16385634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56951445..56952278hg38UCSC Ensembl
Innerchr5:56247272..56248105hg19UCSC Ensembl
Innerchr5:56283029..56283862hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38834
hg19834
hg18834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9794n54
Supporting Variantsnssv1030814
Samples
Known GenesMIER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598225
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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