A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524563



Internal ID22393997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:7071557..7071557hg38UCSC Ensembl
chr11:7092788..7092788hg19UCSC Ensembl
Cytoband11p15.4
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 Variantsnssv14442621, nssv14414330
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)nsv3524563
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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