A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18016452



Internal ID20583492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100292101..100292500hg38UCSC Ensembl
chr14:100758438..100758837hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6510736
Supporting Variants
Samples
Known GenesSLC25A29
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18016452
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.05861


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