A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485904



Internal ID263285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68211157..68216948hg38UCSC Ensembl
chr8:69123392..69129183hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg385792
hg195792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011886
Samples
Known GenesPREX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485904
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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