A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600291



Internal ID16041014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172664147..172739624hg38UCSC Ensembl
Innerchr5:172091150..172166627hg19UCSC Ensembl
Innerchr5:172023755..172099232hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3875478
hg1975478
hg1875478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10173n54
Supporting Variantsnssv1153125
SamplesHGDP01259
Known GenesNEURL1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600291
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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