A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218821



Internal ID22364043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17886140..17886356hg38UCSC Ensembl
chr19:17996949..17997165hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286944, nssv14286943
SamplesNA19239, HG00514
Known GenesSLC5A5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218821
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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