A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303320



Internal ID22224452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47693126..47704995hg38UCSC Ensembl
chr22:48088875..48100744hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3811870
hg1911870
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229916
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303320
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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