A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228185



Internal ID22370453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50643152..50643620hg38UCSC Ensembl
chr22:51081580..51082048hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14304929, nssv14304930
SamplesHG00732, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228185
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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