A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572633



Internal ID16360042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55760389..55785588hg38UCSC Ensembl
Innerchr16:55794301..55819500hg19UCSC Ensembl
Innerchr16:54351802..54377001hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3825200
hg1925200
hg1825200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5126n54
Supporting Variantsnssv857486
Samples
Known GenesCES1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572633
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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