A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187992



Internal ID20755032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12913937..13184729hg38UCSC Ensembl
chr18:12913936..13184728hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38270793
hg19270793
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6532834
Supporting Variants
Samples
Known GenesCEP192, SEH1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187992
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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