A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944928



Internal ID22720400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51076776..51078254hg38UCSC Ensembl
chr18:48603146..48604624hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381479
hg191479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375893
Samples
Known GenesSMAD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944928
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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