A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228552



Internal ID22370708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:12370388..12370728hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5640n152
Supporting Variantsnssv14434043, nssv14464522
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228552
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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