A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600258



Internal ID16040981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:168761153..168770796hg38UCSC Ensembl
Innerchr5:168188158..168197801hg19UCSC Ensembl
Innerchr5:168120736..168130379hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg389644
hg199644
hg189644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153116
SamplesHGDP01215
Known GenesMIR218-2, SLIT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600258
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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