A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562089



Internal ID22430851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29057714..29057714hg38UCSC Ensembl
chr21:30430035..30430035hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301161
SamplesHG00512
Known GenesCCT8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562089
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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