A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488859



Internal ID266153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:101084368..101214368hg38UCSC Ensembl
chr10:102844125..102974125hg19UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg38130001
hg19130001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17039448
Samples
Known GenesTLX1, TLX1NB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488859
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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