A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390439



Internal ID22246755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56376486..56385761hg38UCSC Ensembl
chr16:56410398..56419673hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg389276
hg199276
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210424
Supporting Variants
SamplesHG00733
Known GenesAMFR
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390439
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