A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599482



Internal ID16386891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116205866..116273855hg38UCSC Ensembl
Innerchr5:115541563..115609552hg19UCSC Ensembl
Innerchr5:115569462..115637451hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3867990
hg1967990
hg1867990
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10029n54
Supporting Variantsnssv1153588
SamplesNINDS_23
Known GenesCOMMD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599482
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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