A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14106056



Internal ID21280175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28887003..28894774hg38UCSC Ensembl
Innerchr2:29109869..29117640hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg387772
hg197772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3110701
Supporting Variants
Samplessample294
Known GenesWDR43
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14106056
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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