A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598223



Internal ID16385632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56951445..56952147hg38UCSC Ensembl
Innerchr5:56247272..56247974hg19UCSC Ensembl
Innerchr5:56283029..56283731hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38703
hg19703
hg18703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9794n54
Supporting Variantsnssv1030812
Samples
Known GenesMIER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598223
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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