A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376974



Internal ID22434844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48500327..48500327hg38UCSC Ensembl
chr18:46026698..46026698hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979241
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376974
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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