A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17423227



Internal ID22481097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:627368..641074hg38UCSC Ensembl
chr4:621157..634863hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3813707
hg1913707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895625
Supporting Variants
Samples
Known GenesPDE6B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17423227
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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