A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600290



Internal ID16041013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172657047..172728004hg38UCSC Ensembl
Innerchr5:172084050..172155007hg19UCSC Ensembl
Innerchr5:172016655..172087612hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3870958
hg1970958
hg1870958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10173n54
Supporting Variantsnssv1045483
Samples
Known GenesNEURL1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600290
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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