A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14344701



Internal ID22252968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134867667..134867781hg38UCSC Ensembl
chr8:135879910..135880024hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530040
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14344701
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