A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597150



Internal ID16384559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:11384596..11385085hg38UCSC Ensembl
Innerchr5:11384708..11385197hg19UCSC Ensembl
Innerchr5:11437708..11438197hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38490
hg19490
hg18490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9584n54
Supporting Variantsnssv1025292
Samples
Known GenesCTNND2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597150
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer