A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111754



Internal ID21295020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:139183243..139186542hg38UCSC Ensembl
Innerchr2:139940813..139944112hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14103364
Samplessample425
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111754
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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