A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282510



Internal ID22380845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16624238..16624316hg38UCSC Ensembl
chr5:16624347..16624425hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7213n152
Supporting Variantsnssv14409666
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)nsv3282510
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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