A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488234



Internal ID265553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77609729..77835437hg38UCSC Ensembl
chr10:79369487..79595195hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38225709
hg19225709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035315
Samples
Known GenesDLG5, KCNMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488234
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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