A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208251



Internal ID20775291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197449888..197458946hg38UCSC Ensembl
chr2:198314612..198323670hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg389059
hg199059
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351257
Supporting Variants
Samples
Known GenesCOQ10B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208251
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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