A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559474



Internal ID16346883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81730911..81750246hg38UCSC Ensembl
Innerchr12:82124690..82144025hg19UCSC Ensembl
Innerchr12:80648821..80668156hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3819336
hg1919336
hg1819336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2729n54
Supporting Variantsnssv798932, nssv798933, nssv798934
Samples
Known GenesPPFIA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559474
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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