A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600257



Internal ID16387666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:168245100..168275036hg38UCSC Ensembl
Innerchr5:167672105..167702041hg19UCSC Ensembl
Innerchr5:167604683..167634619hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3829937
hg1929937
hg1829937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153115
SamplesHGDP00551
Known GenesTENM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600257
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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