A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14103313



Internal ID21292943
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 StatusS
Merged Variantsnsv3117148
Supporting Variants
Samplessample93
Known GenesMRPL44
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14103313
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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