A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205780



Internal ID20772820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102182201..102191800hg38UCSC Ensembl
chr2:102798661..102808260hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg389600
hg199600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349543
Supporting Variants
Samples
Known GenesIL1RL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205780
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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