A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279828



Internal ID22378133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226134218..226134284hg38UCSC Ensembl
chr1:226321919..226321985hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv584n152
Supporting Variantsnssv14409744
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)nsv3279828
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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