A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190289



Internal ID20757329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66040707..66049536hg38UCSC Ensembl
chr12:66434487..66443316hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg388830
hg198830
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465947
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190289
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00033


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