A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402380



Internal ID22312964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124483113..124483113hg38UCSC Ensembl
chr8:125495354..125495354hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3549829
Supporting Variants
SamplesNA19240
Known GenesRNF139
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)nssv14402380
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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