A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368481



Internal ID22272085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52055653..52055653hg38UCSC Ensembl
chr13:52629789..52629789hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560282
Supporting Variants
SamplesNA19239
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)nssv14368481
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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