A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942809



Internal ID22718252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36881631..36887668hg38UCSC Ensembl
chr14:37350836..37356873hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg386038
hg196038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380015
Samples
Known GenesSLC25A21
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942809
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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