A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178660



Internal ID20745700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48846053..48854211hg38UCSC Ensembl
chr12:49239836..49247994hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg388159
hg198159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465107
Supporting Variants
Samples
Known GenesDDX23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178660
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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