A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559479



Internal ID16346888
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 StatusM
Merged Variantsdgv2730n54
Supporting Variantsnssv798941, nssv798940, nssv798942
Samples
Known GenesPPFIA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559479
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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