A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556698



Internal ID22425520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46145736..46145736hg38UCSC Ensembl
chr21:47565650..47565650hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396793
SamplesNA19240
Known GenesFTCD
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)nsv3556698
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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