A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302960



Internal ID22187163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17256618..17256867hg38UCSC Ensembl
chr22:17737508..17737757hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217986
Supporting Variants
SamplesHG00731
Known GenesCECR3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14302960
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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