A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13688942



Internal ID21210797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199913322..199913322hg38UCSC Ensembl
chr2:200778045..200778045hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2805873
Supporting Variants
Samples
Known GenesC2orf69
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13688942
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.625


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