A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394975



Internal ID22309159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191742046..191742046hg38UCSC Ensembl
chr2:192606772..192606772hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557899
Supporting Variants
SamplesNA19240
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)nssv14394975
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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