A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939235



Internal ID22714625
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 StatusM
Merged Variants
Supporting Variantsnssv17379826
Samples
Known GenesAHNAK2, PLD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939235
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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