A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280566



Internal ID22378879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129339087..129339312hg38UCSC Ensembl
chr3:129057930..129058155hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14410239
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)nsv3280566
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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