A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304286



Internal ID22164847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50276223..50276399hg38UCSC Ensembl
chr22:50714652..50714828hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228814
Supporting Variants
SamplesHG00514
Known GenesPLXNB2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304286
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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