A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549576



Internal ID22418520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:90884872..90884872hg38UCSC Ensembl
chr9:93647154..93647154hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462784
SamplesHG00733
Known GenesSYK
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)nsv3549576
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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