A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931282



Internal ID22706564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54342407..54344598hg38UCSC Ensembl
chr18:51868777..51870968hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg382192
hg192192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382198
Samples
Known GenesSTARD6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931282
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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