A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685561



Internal ID109227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131577113..131684922hg38UCSC Ensembl
chr12:132061658..132169467hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38107810
hg19107810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509267
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685561
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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