A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310564



Internal ID22167470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170165980..170165980hg38UCSC Ensembl
chr3:169883768..169883768hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562968
Supporting Variants
SamplesHG00514
Known GenesPHC3
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)nssv14310564
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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