A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547269



Internal ID22416245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1754545..1754545hg38UCSC Ensembl
chr11:1775775..1775775hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442581
SamplesHG00733
Known GenesCTSD, MOB2
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)nsv3547269
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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