A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600428



Internal ID16387837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178676563..178686125hg38UCSC Ensembl
Innerchr5:178103564..178113126hg19UCSC Ensembl
Innerchr5:178036170..178045732hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389563
hg199563
hg189563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10195n54
Supporting Variantsnssv1045914, nssv1045913
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600428
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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