A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117062



Internal ID21300328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80430891..80434270hg38UCSC Ensembl
Innerchr12:80824671..80828050hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg383380
hg193380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv265n145
Supporting Variantsnssv14091320, nssv14093841
Samplessample380, sample213
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117062
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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