A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187919



Internal ID20754959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114648939..114730978hg38UCSC Ensembl
chr12:115086744..115168783hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3882040
hg1982040
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6481839
Supporting Variants
Samples
Known GenesTBX3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187919
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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