A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224784



Internal ID22368111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45054945..45055082hg38UCSC Ensembl
chr21:46474860..46474997hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301739, nssv14301740
SamplesHG00731, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224784
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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