A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475861



Internal ID253493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125192352..125201998hg38UCSC Ensembl
chr9:127954631..127964277hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg389647
hg199647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028668
Samples
Known GenesRABEPK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475861
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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