A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14376382



Internal ID22139872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20041132..20041208hg38UCSC Ensembl
chr16:20052454..20052530hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214585
Supporting Variants
SamplesHG00513
Known GenesGPR139
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14376382
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