A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470052



Internal ID247824
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 StatusM
Merged Variants
Supporting Variantsnssv16973286
Samples
Known GenesSEMA6A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470052
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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