A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731032



Internal ID154698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:13926006..13930628hg38UCSC Ensembl
chr20:13906652..13911274hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg384623
hg194623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517402
Supporting Variants
Samples
Known GenesSEL1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731032
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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