A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396212



Internal ID22300581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:262152..262152hg38UCSC Ensembl
chr3:303835..303835hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535853
Supporting Variants
SamplesNA19240
Known GenesCHL1
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)nssv14396212
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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