A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208319



Internal ID20775359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232057742..232078138hg38UCSC Ensembl
chr2:232922452..232942848hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3820397
hg1920397
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338654
Supporting Variants
Samples
Known GenesDIS3L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208319
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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