A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450811



Internal ID22220479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45405287..45405344hg38UCSC Ensembl
chr21:46825202..46825259hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203298
Supporting Variants
SamplesHG00733
Known GenesCOL18A1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14450811
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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