A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551080



Internal ID22419996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6069986..6069986hg38UCSC Ensembl
chr19:6069997..6069997hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14446237
SamplesHG00733
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)nsv3551080
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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