A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208849



Internal ID20775889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99489101..99496900hg38UCSC Ensembl
chr2:100105563..100113362hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg387800
hg197800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349815
Supporting Variants
Samples
Known GenesREV1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208849
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00033


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