A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116987



Internal ID21300253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42627139..42635779hg38UCSC Ensembl
Innerchr12:43020941..43029581hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg388641
hg198641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv255n145
Supporting Variantsnssv14092659, nssv14091680, nssv14092723
Samplessample316, sample111, sample97
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116987
Frequency
Sample Size467
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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