A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597851



Internal ID16038574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:37839675..37840250hg38UCSC Ensembl
Innerchr5:37839777..37840352hg19UCSC Ensembl
Innerchr5:37875534..37876109hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38576
hg19576
hg18576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9728n54
Supporting Variantsnssv1029097
Samples
Known GenesGDNF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597851
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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