A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302936



Internal ID22258269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17147463..17147525hg38UCSC Ensembl
chr22:17628353..17628415hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221926
Supporting Variants
SamplesNA19238
Known GenesCECR5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14302936
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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