A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498666



Internal ID275653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116113571..116173698hg38UCSC Ensembl
chr10:117873082..117933210hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3860128
hg1960129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041171
Samples
Known GenesGFRA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498666
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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