A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303633



Internal ID22130005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41184540..41184856hg38UCSC Ensembl
chr22:41580544..41580860hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230170
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303633
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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