A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562397



Internal ID22431151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41835829..41835829hg38UCSC Ensembl
chr21:43255938..43255938hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14302828, nssv14302829, nssv14302827
SamplesNA19239, HG00513, HG00514
Known GenesPRDM15
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562397
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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