A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945016



Internal ID22720489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54331709..54335950hg38UCSC Ensembl
chr18:51858079..51862320hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg384242
hg194242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378141
Samples
Known GenesSTARD6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945016
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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