A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489447



Internal ID266727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:11099062..11117761hg38UCSC Ensembl
chr10:11141025..11159724hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3818700
hg1918700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17029126
Samples
Known GenesCELF2, CELF2-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489447
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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