A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973286



Internal ID49578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116495163..116495523hg38UCSC Ensembl
chr5:115830859..115831219hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470052
Supporting Variants
Samples
Known GenesSEMA6A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973286
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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