A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402898



Internal ID22300484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138313722..138313722hg38UCSC Ensembl
chr8:139325965..139325965hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524319
Supporting Variants
SamplesNA19240
Known GenesFAM135B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14402898
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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