A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14344479



Internal ID22251523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:145028002..145028002hg38UCSC Ensembl
chr8:146253388..146253388hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565219
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14344479
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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