A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117176



Internal ID21300442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47148111..47161308hg38UCSC Ensembl
Innerchr20:45776750..45789947hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3813198
hg1913198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv687n145
Supporting Variantsnssv14099833
Samplessample134
Known GenesEYA2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117176
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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