A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116974



Internal ID21300240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89554480..89555786hg38UCSC Ensembl
Innerchr1:90020039..90021345hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381307
hg191307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14086609
Samplessample205
Known GenesLRRC8B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116974
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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