A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186514



Internal ID20753554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78778001..78811800hg38UCSC Ensembl
chr12:79171781..79205580hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3833800
hg1933800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457583
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186514
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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