A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13700442



Internal ID21222281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83145208..83145208hg38UCSC Ensembl
chr6:83854927..83854927hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2815030
Supporting Variants
Samples
Known GenesDOPEY1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13700442
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.984375


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