A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3118216



Internal ID21301482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89630783..89635934hg38UCSC Ensembl
Innerchr1:90096342..90101493hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg385152
hg195152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv55n145
Supporting Variantsnssv14106454
Samplessample81
Known GenesFLJ27354, LRRC8C
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3118216
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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