A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114909



Internal ID21298175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28887003..28894788hg38UCSC Ensembl
Innerchr2:29109869..29117654hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg387786
hg197786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv603n145
Supporting Variantsnssv14106761
Samplessample365
Known GenesWDR43
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114909
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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