A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494295



Internal ID271446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:69006709..69007356hg38UCSC Ensembl
chr11:68774177..68774824hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047663
Samples
Known GenesMRGPRF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494295
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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