A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14094365



Internal ID21281256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179023397..179030227hg38UCSC Ensembl
Innerchr1:178992532..178999362hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386831
hg196831
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116860
Supporting Variants
Samplessample309
Known GenesFAM20B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14094365
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