A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556850



Internal ID329975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43296010..43296857hg38UCSC Ensembl
chr13:43870146..43870993hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38848
hg19848
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687290
Samples
Known GenesENOX1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556850
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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