A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379826



Internal ID22437696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104928361..104952154hg38UCSC Ensembl
chr14:105394698..105418491hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3823794
hg1923794
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5939235
Supporting Variants
Samples
Known GenesAHNAK2, PLD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379826
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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