A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14467267



Internal ID22219466
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 StatusS
Merged Variantsnsv3214281
Supporting Variants
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)nssv14467267
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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