A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600193



Internal ID16387602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:163558649..163631595hg38UCSC Ensembl
Innerchr5:162985655..163058601hg19UCSC Ensembl
Innerchr5:162918233..162991179hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3872947
hg1972947
hg1872947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1044998
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600193
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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