A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449687



Internal ID22244962
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 StatusS
Merged Variantsnsv3553236
Supporting Variants
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)nssv14449687
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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