A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559473



Internal ID16346882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81730911..81749929hg38UCSC Ensembl
Innerchr12:82124690..82143708hg19UCSC Ensembl
Innerchr12:80648821..80667839hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3819019
hg1919019
hg1819019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2729n54
Supporting Variantsnssv798928, nssv798931, nssv798929, nssv798930
Samples
Known GenesPPFIA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559473
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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