A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540865



Internal ID22409990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27749220..27749220hg38UCSC Ensembl
chr2:27972087..27972087hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14447505
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)nsv3540865
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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