A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548596



Internal ID22417549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117924182..117924182hg38UCSC Ensembl
chr11:117794897..117794897hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443424
SamplesHG00733
Known GenesTMPRSS13
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)nsv3548596
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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