A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5832285



Internal ID22607220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182305504..182319188hg38UCSC Ensembl
chr2:183170231..183183915hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3813685
hg1913685
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17488755
Samples
Known GenesPDE1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5832285
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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