A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498581



Internal ID275571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102285662..102291832hg38UCSC Ensembl
chr13:102938012..102944182hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg386171
hg196171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692212
Samples
Known GenesFGF14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498581
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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