A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13694019



Internal ID21215869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130091233..130091233hg38UCSC Ensembl
chr3:129810076..129810076hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2806796
Supporting Variants
Samples
Known GenesALG1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13694019
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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