A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597859



Internal ID16385268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:38556243..38556919hg38UCSC Ensembl
Innerchr5:38556345..38557021hg19UCSC Ensembl
Innerchr5:38592102..38592778hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38677
hg19677
hg18677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9729n54
Supporting Variantsnssv1029112
Samples
Known GenesLIFR, LIFR-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597859
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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