A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183450



Internal ID20750490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130828619..130834136hg38UCSC Ensembl
chr12:131313164..131318681hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg385518
hg195518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485584
Supporting Variants
Samples
Known GenesSTX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183450
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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