A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380512



Internal ID22127102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:85555201..85556400hg38UCSC Ensembl
chr16:85588807..85590006hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219075
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14380512
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