A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187418



Internal ID20754458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46891982..46894063hg38UCSC Ensembl
chr12:47285765..47287846hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382082
hg192082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475064
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187418
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00036


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