A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286462



Internal ID22384854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133031013..133031063hg38UCSC Ensembl
chr5:132366705..132366755hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7526n152
Supporting Variantsnssv14410677
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)nsv3286462
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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