A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504862



Internal ID281657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94607234..94607352hg38UCSC Ensembl
chr13:95259488..95259606hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694466
Samples
Known GenesGPR180
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504862
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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