A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519753



Internal ID22384671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:70861402..70861402hg38UCSC Ensembl
chr15:71153741..71153741hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445130, nssv14418099
SamplesHG00733, HG00514
Known GenesLRRC49
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)nsv3519753
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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