A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520673



Internal ID22390081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:86504418..86504418hg38UCSC Ensembl
chr10:88264175..88264175hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg383508
hg193508
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391286, nssv14414595
SamplesNA19240, HG00514
Known GenesWAPAL
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)nsv3520673
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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