A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976888



Internal ID22751823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46463680..46463680hg38UCSC Ensembl
chr21:47883593..47883593hg19UCSC 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 Variantsnssv17408954
Samples
Known GenesDIP2A, DIP2A-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976888
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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