A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542350



Internal ID22411426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223119998..223119998hg38UCSC Ensembl
chr1:223293340..223293340hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14414854, nssv14441385
SamplesHG00733, HG00514
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)nsv3542350
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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