A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468530



Internal ID246326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46784976..46788465hg38UCSC Ensembl
chr4:46786993..46790482hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg383490
hg193490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950878
Samples
Known GenesCOX7B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468530
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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