A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557383



Internal ID16344792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9403667..9567639hg38UCSC Ensembl
Innerchr12:9556263..9720235hg19UCSC Ensembl
Innerchr12:9447530..9611502hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38163973
hg19163973
hg18163973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2344n54
Supporting Variantsnssv787505
Samples
Known GenesDDX12P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557383
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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