A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522950



Internal ID22392374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:59225143..59225143hg38UCSC Ensembl
chr10:60984903..60984903hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442384, nssv14414193
SamplesHG00733, HG00514
Known GenesPHYHIPL
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)nsv3522950
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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