A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501310



Internal ID278212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112555110..112655943hg38UCSC Ensembl
chr11:112425833..112526666hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38100834
hg19100834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052409
Samples
Known GenesLOC387810
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501310
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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