A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466978



Internal ID244803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26368000..26406000hg38UCSC Ensembl
chr6:26368228..26406228hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3838001
hg1938001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982377
Samples
Known GenesBTN2A2, BTN3A1, BTN3A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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