A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17412454



Internal ID22470324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171893421..171893421hg38UCSC Ensembl
chr5:171320425..171320425hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957643
Supporting Variants
Samples
Known GenesFBXW11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17412454
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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