A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375840



Internal ID22322350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:87451198..87451656hg38UCSC Ensembl
chr1:87916881..87917339hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38459
hg19459
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526532
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375840
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