A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006802



Internal ID72154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12732359..12733441hg38UCSC Ensembl
chr8:12589868..12590950hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381083
hg191083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487936
Supporting Variants
Samples
Known GenesLONRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006802
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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