A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375202



Internal ID22194422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88646280..88646336hg38UCSC Ensembl
chr16:88712688..88712744hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224869
Supporting Variants
SamplesHG00731
Known GenesCYBA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375202
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