A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402263



Internal ID181633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72609864..72609864hg38UCSC Ensembl
chr11:72320908..72320908hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048275
Samples
Known GenesPDE2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402263
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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