A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927842



Internal ID19276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199804305..199804849hg38UCSC Ensembl
chr2:200669028..200669572hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38545
hg19545
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450110
Supporting Variants
Samples
Known GenesFTCDNL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927842
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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