A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280316



Internal ID22378627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:55720145..55720200hg38UCSC Ensembl
chr3:55754173..55754228hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5979n152
Supporting Variantsnssv14463500
SamplesHG00733
Known GenesERC2
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)nsv3280316
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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