A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399456



Internal ID22303291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3356070..3356070hg38UCSC Ensembl
chr6:3356304..3356304hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531619
Supporting Variants
SamplesNA19240
Known GenesSLC22A23
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)nssv14399456
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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