A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417721



Internal ID22154043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:96777996..96777996hg38UCSC Ensembl
chr15:97321226..97321226hg19UCSC Ensembl
Cytoband15q26.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520060
Supporting Variants
SamplesHG00514
Known GenesSPATA8-AS1
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)nssv14417721
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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