A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547916



Internal ID22416878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55266511..55266511hg38UCSC Ensembl
chr19:55777879..55777879hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393266, nssv14421008
SamplesNA19240, HG00514
Known GenesHSPBP1
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)nsv3547916
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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