A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112918



Internal ID21296184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:59930630..59942414hg38UCSC Ensembl
Innerchr20:58505685..58517469hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3811785
hg1911785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv693n145
Supporting Variantsnssv14100807
Samplessample397
Known GenesFAM217B, PPP1R3D, SYCP2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112918
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