A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284308



Internal ID22382671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132770055..132770137hg38UCSC Ensembl
chr5:132105747..132105829hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7525n152
Supporting Variantsnssv14410676
SamplesNA19240
Known GenesSEPT8
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)nsv3284308
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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