A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557899



Internal ID22426703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191742046..191742046hg38UCSC Ensembl
chr2:192606772..192606772hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448527, nssv14421265, nssv14394975
SamplesNA19240, HG00733, 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)nsv3557899
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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