A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515345



Internal ID291826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:20000..324000hg38UCSC Ensembl
chr18:20000..324000hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38304001
hg19304001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715113
Samples
Known GenesCOLEC12, MIR8078, ROCK1P1, THOC1, USP14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515345
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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