A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690502



Internal ID114168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104124525..104125040hg38UCSC Ensembl
chr12:104518303..104518818hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38516
hg19516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506924
Supporting Variants
Samples
Known GenesNFYB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690502
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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