A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014502



Internal ID77336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93726770..93726831hg38UCSC Ensembl
chr8:94738998..94739059hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480622
Supporting Variants
Samples
Known GenesFAM92A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014502
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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