A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv800005



Internal ID16093961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86822508..87053980hg38UCSC Ensembl
Innerchr12:87216285..87447757hg19UCSC Ensembl
Innerchr12:85740416..85971888hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38231473
hg19231473
hg18231473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559693
Supporting Variants
Samples
Known GenesMGAT4C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv800005
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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