A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478476



Internal ID256030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127459794..127461152hg38UCSC Ensembl
chr9:130222073..130223431hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381359
hg191359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028779
Samples
Known GenesLRSAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478476
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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