A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890466



Internal ID167810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158659597..158659909hg38UCSC Ensembl
chr1:158629387..158629699hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429897
Supporting Variants
Samples
Known GenesSPTA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890466
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.412894


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