A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950127



Internal ID34105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56179761..56589194hg38UCSC Ensembl
chr4:57045927..57455360hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38409434
hg19409434
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557875
Supporting Variants
Samples
Known GenesAASDH, ARL9, KIAA1211, PAICS, PPAT, SRP72, THEGL
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950127
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000781


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