A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520412



Internal ID22389820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150589727..150589727hg38UCSC Ensembl
chr6:150910863..150910863hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426916, nssv14462868
SamplesHG00733, 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)nsv3520412
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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