A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208837



Internal ID20775877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97825501..97829300hg38UCSC Ensembl
chr2:98441964..98445763hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6350127
Supporting Variants
Samples
Known GenesTMEM131
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208837
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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