A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280656



Internal ID22378969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81292180..81292241hg38UCSC Ensembl
chr3:81341331..81341392hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6043n152
Supporting Variantsnssv14408949
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)nsv3280656
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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