A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600259



Internal ID16387668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:169977084..170050007hg38UCSC Ensembl
Innerchr5:169404088..169477011hg19UCSC Ensembl
Innerchr5:169336666..169409589hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3872924
hg1972924
hg1872924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045387
Samples
Known GenesDOCK2, FAM196B, MIR378E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600259
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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