A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684722



Internal ID108388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116886277..116888366hg38UCSC Ensembl
chr12:117324082..117326171hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382090
hg192090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511805
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684722
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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