A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14393458



Internal ID22309669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6069990..6069990hg38UCSC Ensembl
chr19:6070001..6070001hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3545125
Supporting Variants
SamplesNA19240
Known GenesRFX2
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)nssv14393458
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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