A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504098



Internal ID280908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:107543640..107543853hg38UCSC Ensembl
chr11:107414366..107414579hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17050689
Samples
Known GenesALKBH8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504098
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer