A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538802



Internal ID22407976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23712695..23712766hg38UCSC Ensembl
chr22:24054882..24054953hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14304032, nssv14304030, nssv14304031
SamplesNA19238, HG00732, HG00733
Known GenesGUSBP11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3538802
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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