A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600289



Internal ID16041012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172657047..172700301hg38UCSC Ensembl
Innerchr5:172084050..172127304hg19UCSC Ensembl
Innerchr5:172016655..172059909hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3843255
hg1943255
hg1843255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045482
Samples
Known GenesNEURL1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600289
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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