A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14286217



Internal ID22200598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16104090..16104216hg38UCSC Ensembl
chr19:16214900..16215026hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218205
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14286217
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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