A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496212



Internal ID273291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108358364..108376364hg38UCSC Ensembl
chr11:108229091..108247091hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3818001
hg1918001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17049122
Samples
Known GenesATM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496212
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