A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3118099



Internal ID21301365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110118191..110210393hg38UCSC Ensembl
Innerchr2:110875768..110967970hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3892203
hg1992203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14106193
Samplessample325
Known GenesNPHP1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3118099
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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