A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193183



Internal ID20760223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30588601..30594500hg38UCSC Ensembl
chr12:30741535..30747434hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465026
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193183
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00138


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