A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501295



Internal ID278197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62658329..62669147hg38UCSC Ensembl
chr11:62425801..62436619hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3810819
hg1910819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047864
Samples
Known GenesC11orf48, LOC102288414, METTL12, SNORA57
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501295
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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