A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14097345



Internal ID21293055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141333155..141340483hg38UCSC Ensembl
Innerchr5:140712722..140720050hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387329
hg197329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111162
Supporting Variants
Samplessample95
Known GenesPCDHGA1, PCDHGA2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14097345
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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