A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187769



Internal ID20754809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:25435701..25442100hg38UCSC Ensembl
chr15:25680848..25687247hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg386400
hg196400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6505884
Supporting Variants
Samples
Known GenesUBE3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187769
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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