A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538216



Internal ID22407404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160282998..160282998hg38UCSC Ensembl
chr5:159710005..159710005hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399140
SamplesNA19240
Known GenesCCNJL
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)nsv3538216
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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