A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304771



Internal ID22124337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28816204..28816687hg38UCSC Ensembl
chr22:29212192..29212675hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217669
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304771
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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