A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597148



Internal ID16384557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:11310823..11312415hg38UCSC Ensembl
Innerchr5:11310935..11312527hg19UCSC Ensembl
Innerchr5:11363935..11365527hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381593
hg191593
hg181593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9583n54
Supporting Variantsnssv1025289, nssv1025290
Samples
Known GenesCTNND2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597148
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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