A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598723



Internal ID16386132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78814294..78820971hg38UCSC Ensembl
Innerchr5:78110117..78116794hg19UCSC Ensembl
Innerchr5:78145873..78152550hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg386678
hg196678
hg186678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9894n54
Supporting Variantsnssv1035257, nssv1035256
Samples
Known GenesARSB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598723
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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