A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343927



Internal ID22197129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130424995..130424995hg38UCSC Ensembl
chr8:131437241..131437241hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565204
Supporting Variants
SamplesHG00731
Known GenesASAP1
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)nssv14343927
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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