A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472723



Internal ID250427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116093938..116170774hg38UCSC Ensembl
chr5:115429635..115506471hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3876837
hg1976837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973739
Samples
Known GenesCOMMD10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472723
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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