A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014504



Internal ID77338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93804950..93809448hg38UCSC Ensembl
chr8:94817178..94821676hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg384499
hg194499
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561336
Supporting Variants
Samples
Known GenesTMEM67
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014504
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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