A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597849



Internal ID16385258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:37839516..37840540hg38UCSC Ensembl
Innerchr5:37839618..37840642hg19UCSC Ensembl
Innerchr5:37875375..37876399hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381025
hg191025
hg181025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029095
Samples
Known GenesGDNF, GDNF-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597849
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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