A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13686158



Internal ID21208013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80274588..80274588hg38UCSC Ensembl
chr17:78248387..78248387hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2797225
Supporting Variants
Samples
Known GenesRNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13686158
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.5


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