A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14305116



Internal ID22199957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45349423..45350364hg38UCSC Ensembl
chr22:45745304..45746245hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38942
hg19942
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539296
Supporting Variants
SamplesHG00732
Known GenesSMC1B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14305116
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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