A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6257794



Internal ID22062404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77900950..77900950hg38UCSC Ensembl
chr9:80515866..80515866hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17841490
Samples
Known GenesGNAQ
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6257794
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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