A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291685



Internal ID22207755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50006138..50006138hg38UCSC Ensembl
chr19:50509395..50509395hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561225
Supporting Variants
SamplesHG00732
Known GenesVRK3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291685
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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