A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv800003



Internal ID16093959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86535563..86626600hg38UCSC Ensembl
Innerchr12:86929340..87020377hg19UCSC Ensembl
Innerchr12:85453471..85544508hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3891038
hg1991038
hg1891038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559690
Supporting Variants
Samples
Known GenesMGAT4C, MIR548AL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv800003
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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