A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14094579



Internal ID21269445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:44139389..44143630hg38UCSC Ensembl
Innerchr13:44713525..44717766hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg384242
hg194242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3115555
Supporting Variants
Samplessample139
Known GenesSMIM2, SMIM2-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14094579
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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