A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518059



Internal ID15445352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86022434..86353948hg38UCSC Ensembl
Innerchr12:86416212..86747726hg19UCSC Ensembl
Innerchr12:84940343..85271857hg18UCSC Ensembl
Innerchr12:84918680..85250194hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38331515
hg19331515
hg18331515
hg17331515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695470
Samples
Known GenesMGAT4C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518059
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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