A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493212



Internal ID270400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125019279..125019487hg38UCSC Ensembl
chr8:126031521..126031729hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017171
Samples
Known GenesSQLE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493212
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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