A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689780



Internal ID113446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85956358..85957619hg38UCSC Ensembl
chr12:86350137..86351398hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381262
hg191262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501329
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689780
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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