A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208080



Internal ID20775120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203476423..203761827hg38UCSC Ensembl
chr2:204341146..204626550hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38285405
hg19285405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351728
Supporting Variants
Samples
Known GenesCD28, RAPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208080
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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