A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398162



Internal ID22318899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46495010..46495010hg38UCSC Ensembl
chr3:46536500..46536500hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558036
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)nssv14398162
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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