A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114047



Internal ID21297313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230721580..230734685hg38UCSC Ensembl
Innerchr2:231586295..231599400hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3813106
hg1913106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14106220
Samplessample329
Known GenesCAB39
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114047
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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