A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14426468



Internal ID22166843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106589213..106589213hg38UCSC Ensembl
chr6:107037088..107037088hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534048
Supporting Variants
SamplesHG00514
Known GenesRTN4IP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14426468
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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