A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283290



Internal ID22381631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:108258206..108258280hg38UCSC Ensembl
chr13:108910554..108910628hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403710
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)nsv3283290
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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