A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208183



Internal ID20775223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30148029..30315124hg38UCSC Ensembl
chr2:30370895..30537990hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38167096
hg19167096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6354938
Supporting Variants
Samples
Known GenesLBH, YPEL5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208183
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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