A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559667



Internal ID16000390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85924226..86022434hg38UCSC Ensembl
Innerchr12:86318004..86416212hg19UCSC Ensembl
Innerchr12:84842135..84940343hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3898209
hg1998209
hg1898209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv799961
Samples
Known GenesMGAT4C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559667
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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