A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6519945



Internal ID20893306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48852007..49251989hg38UCSC Ensembl
chr18:46378378..46778359hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38399983
hg19399982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179595
Samples
Known GenesCTIF, DYM, MIR4744, SMAD7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6519945
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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