A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206174



Internal ID20773214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229860184..230043212hg38UCSC Ensembl
chr2:230724900..230907928hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38183029
hg19183029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6346452
Supporting Variants
Samples
Known GenesFBXO36, SLC16A14, TRIP12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206174
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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