A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282954



Internal ID22381292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45108876..45108936hg38UCSC Ensembl
chr3:45150368..45150428hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435275
SamplesHG00514
Known GenesCDCP1
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)nsv3282954
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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