A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508042



Internal ID284742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18246000..18261500hg38UCSC Ensembl
chr11:18267547..18283047hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3815501
hg1915501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17043685
Samples
Known GenesSAA2, SAA2-SAA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508042
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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