A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542393



Internal ID22411470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69204061..69204061hg38UCSC Ensembl
chr5:68499888..68499888hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399046, nssv14425129
SamplesNA19240, HG00514
Known GenesCENPH
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)nsv3542393
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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