A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111162



Internal ID21294428
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 StatusM
Merged Variants
Supporting Variantsnssv14097345
Samplessample95
Known GenesPCDHGA1, PCDHGA2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111162
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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