A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562107



Internal ID22430869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17911873..17911873hg38UCSC Ensembl
chr22:18394639..18394639hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303026, nssv14303027, nssv14303028, nssv14303029, nssv14303025, nssv14303030
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00513
Known GenesMICAL3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562107
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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