A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445371



Internal ID223722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99610946..99644516hg38UCSC Ensembl
chr3:99329790..99363360hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3833571
hg1933571
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937425
Samples
Known GenesCOL8A1, MIR548G
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445371
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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