A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304289



Internal ID22203909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50337600..50337663hg38UCSC Ensembl
chr22:50776029..50776092hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220701
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304289
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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