A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432745



Internal ID211481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66181603..66181791hg38UCSC Ensembl
chr1:66647286..66647474hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903925
Samples
Known GenesPDE4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432745
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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