A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1029095



Internal ID15882281
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 StatusS
Merged Variantsnsv597849
Supporting Variants
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)nssv1029095
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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