A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521438



Internal ID297733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10787326..10787414hg38UCSC Ensembl
chr18:10787324..10787412hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715384
Samples
Known GenesPIEZO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521438
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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