A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376503



Internal ID22602172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39065062..39065062hg38UCSC Ensembl
chr14:39534266..39534266hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5971535
Supporting Variants
Samples
Known GenesSEC23A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376503
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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