A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101488



Internal ID21284420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40511746..40520105hg38UCSC Ensembl
Innerchr19:41017653..41026012hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg388360
hg198360
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3115267
Supporting Variants
Samplessample360
Known GenesSPTBN4
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14101488
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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