A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480750



Internal ID258249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63923059..63939066hg38UCSC Ensembl
chr8:64835616..64851623hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3816008
hg1916008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012628
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480750
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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