A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450321



Internal ID22245513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46860152..46860223hg38UCSC Ensembl
chr22:47256048..47256119hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209374
Supporting Variants
SamplesHG00733
Known GenesTBC1D22A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14450321
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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