A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4390229



Internal ID21381364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231747655..231747736hg38UCSC Ensembl
chr2:232612365..232612446hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15706968
Samples
Known GenesPDE6D
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4390229
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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