A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530775



Internal ID22400145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39357599..39357661hg38UCSC Ensembl
chr22:39753604..39753666hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303587, nssv14303588, nssv14303590, nssv14303586, nssv14303585, nssv14303589
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesSYNGR1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3530775
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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