A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597754



Internal ID16385163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29396937..29477062hg38UCSC Ensembl
Innerchr5:29397044..29477169hg19UCSC Ensembl
Innerchr5:29432801..29512926hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3880126
hg1980126
hg1880126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028847
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597754
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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