A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13694135



Internal ID21215983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238231712..238231712hg38UCSC Ensembl
chr2:239140353..239140353hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2806157
Supporting Variants
Samples
Known GenesLOC643387
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13694135
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.216667


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