A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281314



Internal ID22379637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184858211..184858787hg38UCSC Ensembl
chr4:185779365..185779941hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38577
hg19577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14465079
SamplesHG00733
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)nsv3281314
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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