A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572789



Internal ID16360198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:58614657..58619934hg38UCSC Ensembl
Innerchr16:58648561..58653838hg19UCSC Ensembl
Innerchr16:57206062..57211339hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg385278
hg195278
hg185278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5156n54
Supporting Variantsnssv858703, nssv858702, nssv858704, nssv858705, nssv858701
Samples
Known GenesCNOT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572789
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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