A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116848



Internal ID21300114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38375314..38378987hg38UCSC Ensembl
Innerchr2:38602456..38606129hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg383674
hg193674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv612n145
Supporting Variantsnssv14105750
Samplessample224
Known GenesATL2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116848
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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