A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279667



Internal ID22377970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151081300..151081355hg38UCSC Ensembl
chr3:150799087..150799142hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6199n152
Supporting Variantsnssv14409935, nssv14434958
SamplesNA19240, HG00514
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)nsv3279667
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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