A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523414



Internal ID22392841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:35181413..35181413hg38UCSC Ensembl
chr15:35473614..35473614hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417603, nssv14374128
SamplesNA19240, HG00514
Known Genes
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)nsv3523414
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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