A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303592



Internal ID22273600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39468638..39469191hg38UCSC Ensembl
chr22:39864643..39865196hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3537439
Supporting Variants
SamplesNA19239
Known GenesMGAT3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303592
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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