A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207500



Internal ID20774540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42534201..42555300hg38UCSC Ensembl
chr22:42930207..42951306hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3821100
hg1921100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6554231
Supporting Variants
Samples
Known GenesSERHL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207500
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.12109


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