A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18016025



Internal ID20583065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21530214..21531575hg38UCSC Ensembl
chr14:21998348..21999709hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381362
hg191362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480182
Supporting Variants
Samples
Known GenesSALL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18016025
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0005


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