A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490759



Internal ID268011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125200999..125212273hg38UCSC Ensembl
chr8:126213241..126224515hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3811275
hg1911275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015374
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490759
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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