A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115982



Internal ID21299248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227314324..227321464hg38UCSC Ensembl
Innerchr1:227502025..227509165hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg387141
hg197141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv116n145
Supporting Variantsnssv14093774
Samplessample304
Known GenesCDC42BPA
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115982
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer