A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13692583



Internal ID21214436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50094271..50094271hg38UCSC Ensembl
chr20:48710808..48710808hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2802902
Supporting Variants
Samples
Known GenesTMEM189-UBE2V1, UBE2V1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13692583
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.296875


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