A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200881



Internal ID22350270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45405287..45405342hg38UCSC Ensembl
chr21:46825202..46825257hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5586n152
Supporting Variantsnssv14422168, nssv14396355
SamplesNA19240, HG00514
Known GenesCOL18A1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200881
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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