A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518114



Internal ID294510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36373598..36376773hg38UCSC Ensembl
chr18:33953561..33956736hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg383176
hg193176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717364
Samples
Known GenesFHOD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518114
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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