A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558129



Internal ID22426932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:62928909..62928909hg38UCSC Ensembl
chr10:64688669..64688669hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14414208, nssv14377860
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558129
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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