A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377700



Internal ID22312738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79395698..79395698hg38UCSC Ensembl
chr12:79789478..79789478hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521989
Supporting Variants
SamplesNA19240
Known GenesSYT1
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)nssv14377700
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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