A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497340



Internal ID274379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92108755..92120992hg38UCSC Ensembl
chr13:92761008..92773245hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3812238
hg1912238
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693080
Samples
Known GenesGPC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497340
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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