A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597854



Internal ID16038577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:37839952..37840540hg38UCSC Ensembl
Innerchr5:37840054..37840642hg19UCSC Ensembl
Innerchr5:37875811..37876399hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38589
hg19589
hg18589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029100
Samples
Known GenesGDNF-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597854
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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