A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321782



Internal ID22281510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115841910..115842113hg38UCSC Ensembl
chr5:115177607..115177810hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191257
Supporting Variants
SamplesNA19239
Known GenesAP3S1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321782
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