A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286620



Internal ID22385011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39277673..39277737hg38UCSC Ensembl
chr14:39746877..39746941hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2593n152
Supporting Variantsnssv14455259
SamplesHG00733
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)nsv3286620
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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