A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283411



Internal ID22381756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39277673..39277729hg38UCSC Ensembl
chr14:39746877..39746933hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2593n152
Supporting Variantsnssv14405566
SamplesNA19240
Known GenesCTAGE5
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)nsv3283411
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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