A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14305630



Internal ID22129887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36126529..36126747hg38UCSC Ensembl
chr22:36522577..36522795hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216513
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14305630
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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