A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113251



Internal ID21296517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:147842199..147846922hg38UCSC Ensembl
Innerchr2:148599768..148604491hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg384724
hg194724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14105681
Samplessample208
Known GenesACVR2A
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113251
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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