A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600429



Internal ID16387838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178676563..178686182hg38UCSC Ensembl
Innerchr5:178103564..178113183hg19UCSC Ensembl
Innerchr5:178036170..178045789hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389620
hg199620
hg189620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10195n54
Supporting Variantsnssv1045916, nssv1045915
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600429
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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