A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386233



Internal ID22128380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75621256..75621256hg38UCSC Ensembl
chr16:75655154..75655154hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560764
Supporting Variants
SamplesHG00512
Known GenesADAT1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14386233
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