A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304880



Internal ID22129821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32531180..32531906hg38UCSC Ensembl
chr22:32927167..32927893hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38727
hg19727
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215986
Supporting Variants
SamplesHG00513
Known GenesSYN3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304880
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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