A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600288



Internal ID16041011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172652886..172744267hg38UCSC Ensembl
Innerchr5:172079889..172171270hg19UCSC Ensembl
Innerchr5:172012494..172103875hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3891382
hg1991382
hg1891382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10173n54
Supporting Variantsnssv1153124
SamplesHGDP00642
Known GenesNEURL1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600288
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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