A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390802



Internal ID22129097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63082393..63082393hg38UCSC Ensembl
chr15:63374592..63374592hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560466
Supporting Variants
SamplesHG00512
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)nssv14390802
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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