A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498987



Internal ID275968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92781376..92892286hg38UCSC Ensembl
chr13:93433629..93544539hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38110911
hg19110911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691151
Samples
Known GenesGPC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498987
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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