A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14441385



Internal ID22230022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223119998..223119998hg38UCSC Ensembl
chr1:223293340..223293340hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542350
Supporting Variants
SamplesHG00733
Known GenesTLR5
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)nssv14441385
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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