A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507269



Internal ID283997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43929326..43946220hg38UCSC Ensembl
chr11:43950876..43967770hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3816895
hg1916895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17044981
Samples
Known GenesC11orf96
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507269
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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