A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411303



Internal ID190613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60151808..60151859hg38UCSC Ensembl
chr5:59447635..59447686hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965736
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411303
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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