A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287453



Internal ID22271665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154713955..154714570hg38UCSC Ensembl
chr1:154686431..154687046hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526482
Supporting Variants
SamplesNA19239
Known GenesKCNN3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287453
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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