A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209516



Internal ID20776556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:109234672..109474012hg38UCSC Ensembl
chr4:110155828..110395168hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38239341
hg19239341
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6392692
Supporting Variants
Samples
Known GenesCOL25A1, SEC24B, SEC24B-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209516
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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