A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524756



Internal ID22394191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5595127..5595127hg38UCSC Ensembl
chr5:5595240..5595240hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399016, nssv14462560
SamplesNA19240, HG00733
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)nsv3524756
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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