A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014563



Internal ID77382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94460724..94464488hg38UCSC Ensembl
chr8:95472952..95476716hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383765
hg193765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484510
Supporting Variants
Samples
Known GenesRAD54B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014563
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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