A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553236



Internal ID22422122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45054945..45054945hg38UCSC Ensembl
chr21:46474860..46474860hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14449687
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3553236
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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