A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17442669



Internal ID22500539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:84380784..84431189hg38UCSC Ensembl
chr8:85293019..85343424hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3850406
hg1950406
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5908219
Supporting Variants
Samples
Known GenesRALYL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17442669
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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