A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280775



Internal ID22379090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179727891..179728039hg38UCSC Ensembl
chr3:179445679..179445827hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6270n152
Supporting Variantsnssv14408965, nssv14458320
SamplesNA19240, HG00733
Known GenesUSP13
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)nsv3280775
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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