A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379153



Internal ID22437023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105589424..105861306hg38UCSC Ensembl
chr14:106055761..106327516hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38271883
hg19271756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5945706
Supporting Variants
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379153
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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