A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502985



Internal ID279834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3828226..3889856hg38UCSC Ensembl
chr11:3849456..3911086hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3861631
hg1961631
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040636
Samples
Known GenesMIR4687, RHOG, STIM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502985
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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