A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303457



Internal ID22258350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48797443..48797545hg38UCSC Ensembl
chr22:49193255..49193357hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214307
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303457
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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