A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14100785



Internal ID21286368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47151692..47161308hg38UCSC Ensembl
Innerchr20:45780331..45789947hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg389617
hg199617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3118064
Supporting Variants
Samplessample387
Known GenesEYA2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14100785
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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