A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582117



Internal ID16022840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:60780647..60892336hg38UCSC Ensembl
Innerchr2:61007782..61119471hg19UCSC Ensembl
Innerchr2:60861286..60972975hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38111690
hg19111690
hg18111690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6908n54
Supporting Variantsnssv911331
Samples
Known GenesFLJ16341, PAPOLG, REL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582117
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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