A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490037



Internal ID267300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127933362..127951132hg38UCSC Ensembl
chr8:128945608..128963378hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3817771
hg1917771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016444
Samples
Known GenesPVT1, TMEM75
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490037
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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