A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117148



Internal ID21300414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:223965692..223970525hg38UCSC Ensembl
Innerchr2:224830409..224835242hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg384834
hg194834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14103313
Samplessample93
Known GenesMRPL44
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117148
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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