A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572790



Internal ID16360199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:58614657..58626486hg38UCSC Ensembl
Innerchr16:58648561..58660390hg19UCSC Ensembl
Innerchr16:57206062..57217891hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3811830
hg1911830
hg1811830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5154n54
Supporting Variantsnssv858706
Samples
Known GenesCNOT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572790
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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