A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280683



Internal ID22378997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:519672..519784hg38UCSC Ensembl
chr4:513461..513573hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14410007
SamplesNA19240
Known GenesPIGG
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)nsv3280683
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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