A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505850



Internal ID282613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:86047034..87555409hg38UCSC Ensembl
chr11:85758076..87266301hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg381508376
hg191508226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17049625
Samples
Known GenesC11orf73, CCDC81, EED, FZD4, LOC100506368, ME3, MIR6755, OR7E2P, PICALM, PRSS23, TMEM135
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505850
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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