A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014164



Internal ID77117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:84380784..84431193hg38UCSC Ensembl
chr8:85293019..85343428hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3850410
hg1950410
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476808
Supporting Variants
Samples
Known GenesRALYL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014164
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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