A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690195



Internal ID113861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98297774..98359287hg38UCSC Ensembl
chr12:98691552..98753065hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3861514
hg1961514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500286
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690195
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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