A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290541



Internal ID22183712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65519326..65519326hg38UCSC Ensembl
chr2:65746460..65746460hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562849
Supporting Variants
SamplesHG00731
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)nssv14290541
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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