A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520720



Internal ID22390128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:79905292..79905292hg38UCSC Ensembl
chr15:80197634..80197634hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445184
SamplesHG00733
Known GenesST20, ST20-MTHFS
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)nsv3520720
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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