A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438960



Internal ID217510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231752928..231757408hg38UCSC Ensembl
chr2:232617638..232622118hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384481
hg194481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925075
Samples
Known GenesPDE6D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438960
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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