A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114118



Internal ID21297384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132307188..132310807hg38UCSC Ensembl
Innerchr5:131642881..131646500hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383620
hg193620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14109065
Samplessample230
Known GenesSLC22A4
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114118
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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