A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472333



Internal ID250047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26368000..26443500hg38UCSC Ensembl
chr6:26368228..26443728hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3875501
hg1975501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982376
Samples
Known GenesBTN2A2, BTN2A3P, BTN3A1, BTN3A2, BTN3A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472333
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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