A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114888



Internal ID21298154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65457879..65558422hg38UCSC Ensembl
Innerchr1:65923562..66024105hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38100544
hg19100544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14087098, nssv14088824
Samplessample220, sample251
Known GenesLEPR
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114888
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer