A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323154



Internal ID22206096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67224201..67224750hg38UCSC Ensembl
chr5:66520029..66520578hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204663
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323154
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