A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559468



Internal ID16346877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81615996..81728618hg38UCSC Ensembl
Innerchr12:82009775..82122397hg19UCSC Ensembl
Innerchr12:80533906..80646528hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38112623
hg19112623
hg18112623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798922
Samples
Known GenesPPFIA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559468
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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