A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3536552



Internal ID22405780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42896342..42896400hg38UCSC Ensembl
chr22:43292348..43292406hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14304321, nssv14304319, nssv14304322, nssv14304318, nssv14304320
SamplesNA19238, HG00731, HG00732, NA19240, HG00733
Known GenesPACSIN2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3536552
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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