A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900958



Internal ID22676105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231752918..231757381hg38UCSC Ensembl
chr2:232617628..232622091hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384464
hg194464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389776
Samples
Known GenesPDE6D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900958
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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