A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928980



Internal ID22704226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48785507..48789371hg38UCSC Ensembl
chr18:46311878..46315742hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383865
hg193865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387318
Samples
Known GenesCTIF
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928980
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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