A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396652



Internal ID22325035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179727830..179727830hg38UCSC Ensembl
chr3:179445618..179445618hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541190
Supporting Variants
SamplesNA19240
Known GenesUSP13
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)nssv14396652
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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