A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597806



Internal ID16385215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34656529..34657239hg38UCSC Ensembl
Innerchr5:34656634..34657344hg19UCSC Ensembl
Innerchr5:34692391..34693101hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38711
hg19711
hg18711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9720n54
Supporting Variantsnssv1028940, nssv1028941
Samples
Known GenesRAI14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597806
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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