A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912175



Internal ID22687391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44607997..44610788hg38UCSC Ensembl
chr11:44629547..44632338hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382792
hg192792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv230n209
Supporting Variantsnssv17366164
Samples
Known GenesCD82
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912175
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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