A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485966



Internal ID263345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73509654..73509748hg38UCSC Ensembl
chr10:75269412..75269506hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17036965
Samples
Known GenesUSP54
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485966
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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