A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3537439



Internal ID22406643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39468638..39469191hg38UCSC Ensembl
chr22:39864643..39865196hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303591, nssv14303593, nssv14303592
SamplesNA19238, NA19239, NA19240
Known GenesMGAT3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3537439
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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