A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113648



Internal ID21296914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:44141010..44143630hg38UCSC Ensembl
Innerchr13:44715146..44717766hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg382621
hg192621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14094436, nssv14094519, nssv14094493, nssv14094595, nssv14094456, nssv14095732
Samplessample69, sample81, sample148, sample97, sample215, sample110
Known GenesSMIM2, SMIM2-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113648
Frequency
Sample Size467
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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