A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508437



Internal ID285125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75224463..75334029hg38UCSC Ensembl
chr11:74935508..75045073hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38109567
hg19109566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047202
Samples
Known GenesARRB1, TPBGL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508437
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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