A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934010



Internal ID22709329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45126264..45128110hg38UCSC Ensembl
chr14:45595467..45597313hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg381847
hg191847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380782
Samples
Known GenesFKBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934010
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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