A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217534



Internal ID22363164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43470237..43470327hg38UCSC Ensembl
chr21:44890117..44890207hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5558n152
Supporting Variantsnssv14433610
SamplesHG00514
Known GenesLINC00313
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217534
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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