A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559668



Internal ID16347077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86022434..86038337hg38UCSC Ensembl
Innerchr12:86416212..86432115hg19UCSC Ensembl
Innerchr12:84940343..84956246hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3815904
hg1915904
hg1815904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv799962
Samples
Known GenesMGAT4C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559668
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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