A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446273



Internal ID224598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121303574..121315574hg38UCSC Ensembl
chr3:121022421..121034421hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3812001
hg1912001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938077
Samples
Known GenesSTXBP5L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446273
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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