A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551046



Internal ID22419962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29093082..29093082hg38UCSC Ensembl
chr19:29583989..29583989hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420443
SamplesHG00514
Known Genes
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)nsv3551046
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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