A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389792



Internal ID22196828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81704149..81711026hg38UCSC Ensembl
chr16:81737754..81744631hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg386878
hg196878
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229601
Supporting Variants
SamplesHG00731
Known GenesCMIP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389792
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer