A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559475



Internal ID16346884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81730911..81750556hg38UCSC Ensembl
Innerchr12:82124690..82144335hg19UCSC Ensembl
Innerchr12:80648821..80668466hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3819646
hg1919646
hg1819646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2729n54
Supporting Variantsnssv798935, nssv798936
Samples
Known GenesPPFIA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559475
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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