A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476068



Internal ID253689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77957123..77966238hg38UCSC Ensembl
chr9:80572039..80581154hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg389116
hg199116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025997
Samples
Known GenesGNAQ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476068
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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