A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291519



Internal ID22198982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45400756..45401069hg38UCSC Ensembl
chr19:45904014..45904327hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522534
Supporting Variants
SamplesHG00732
Known GenesPPP1R13L
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291519
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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