A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597846



Internal ID16038569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:37430113..37813489hg38UCSC Ensembl
Innerchr5:37430215..37813591hg19UCSC Ensembl
Innerchr5:37465972..37849348hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38383377
hg19383377
hg18383377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029092
Samples
Known GenesGDNF, WDR70
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597846
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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