A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600667



Internal ID16041390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179796022..179802039hg38UCSC Ensembl
Innerchr5:179223023..179229039hg19UCSC Ensembl
Innerchr5:179155629..179161645hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386018
hg196017
hg186017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10241n54
Supporting Variantsnssv1047032
Samples
Known GenesLTC4S, MGAT4B, MIR1229
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600667
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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