A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686589



Internal ID110255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30456003..30458533hg38UCSC Ensembl
chr13:31030140..31032670hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382531
hg192531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496513
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686589
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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