A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542943



Internal ID22412008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113236410..113236410hg38UCSC Ensembl
chr2:113993987..113993987hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395278
SamplesNA19240
Known GenesPAX8, PAX8-AS1
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)nsv3542943
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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