A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014470



Internal ID77317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108058578..108063796hg38UCSC Ensembl
chr8:109070806..109076024hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg385219
hg195219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483090
Supporting Variants
Samples
Known GenesRSPO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014470
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.012804


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