A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv798940



Internal ID16092896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81736586..81749797hg38UCSC Ensembl
Innerchr12:82130365..82143576hg19UCSC Ensembl
Innerchr12:80654496..80667707hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3813212
hg1913212
hg1813212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559479
Supporting Variants
Samples
Known GenesPPFIA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv798940
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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