A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012064



Internal ID75713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73433211..73436579hg38UCSC Ensembl
chr8:74345446..74348814hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg383369
hg193369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481340
Supporting Variants
Samples
Known GenesSTAU2, STAU2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012064
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01202


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