A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214281



Internal ID22360978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27325111..27325227hg38UCSC Ensembl
chr22:27721072..27721188hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5702n152
Supporting Variantsnssv14467267
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)nsv3214281
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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