A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540495



Internal ID22409632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134329121..134329121hg38UCSC Ensembl
chr3:134047963..134047963hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397479
SamplesNA19240
Known Genes
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)nsv3540495
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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