A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492660



Internal ID269867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53994753..53995192hg38UCSC Ensembl
chr8:54907313..54907752hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011661
Samples
Known GenesTCEA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492660
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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