A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384821



Internal ID22442691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80678047..80678047hg38UCSC Ensembl
chr14:81144391..81144391hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5975961
Supporting Variants
Samples
Known GenesCEP128
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384821
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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