A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291733



Internal ID22256521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50506651..50510750hg38UCSC Ensembl
chr19:51009908..51014007hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214655
Supporting Variants
SamplesNA19238
Known GenesJOSD2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291733
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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