A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385223



Internal ID22443093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88789922..88789971hg38UCSC Ensembl
chr14:89256266..89256315hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940428
Supporting Variants
Samples
Known GenesEML5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385223
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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