A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597146



Internal ID16384555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:11310662..11312089hg38UCSC Ensembl
Innerchr5:11310774..11312201hg19UCSC Ensembl
Innerchr5:11363774..11365201hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381428
hg191428
hg181428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9583n54
Supporting Variantsnssv1025287
Samples
Known GenesCTNND2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597146
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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