A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938269



Internal ID22713648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105590280..105860627hg38UCSC Ensembl
chr14:106056617..106326837hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38270348
hg19270221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv632n209
Supporting Variantsnssv17384261
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938269
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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