A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13695129



Internal ID21216978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241614779..241614779hg38UCSC Ensembl
chr1:241778081..241778081hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2801450
Supporting Variants
Samples
Known GenesOPN3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13695129
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.75


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