A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3110446



Internal ID21293712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80430891..80434498hg38UCSC Ensembl
Innerchr12:80824671..80828278hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg383608
hg193608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv265n145
Supporting Variantsnssv14092615, nssv14092476, nssv14093764, nssv14091508, nssv14091603, nssv14091637, nssv14092660
Samplessample316, sample53, sample359, sample88, sample81, sample304, sample259
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3110446
Frequency
Sample Size467
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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