A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600668



Internal ID16041391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179800865..179815581hg38UCSC Ensembl
Innerchr5:179227865..179242581hg19UCSC Ensembl
Innerchr5:179160471..179175187hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3814717
hg1914717
hg1814717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1047033
Samples
Known GenesMGAT4B, SQSTM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600668
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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