A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14419143



Internal ID22156119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60552116..60552116hg38UCSC Ensembl
chr17:58629477..58629477hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558312
Supporting Variants
SamplesHG00514
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)nssv14419143
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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