A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117684



Internal ID21300950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:2307654..2310436hg38UCSC Ensembl
Innerchr2:2311426..2314208hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg382783
hg192783
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14106111
Samplessample310
Known GenesMYT1L
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117684
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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