A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498709



Internal ID275695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125102763..125108538hg38UCSC Ensembl
chr10:126791332..126797107hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg385776
hg195776
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17038902
Samples
Known GenesCTBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498709
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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