A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684092



Internal ID107758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92243055..92256626hg38UCSC Ensembl
chr12:92636831..92650402hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3813572
hg1913572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506054
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684092
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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