A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684884



Internal ID108550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120262573..120262624hg38UCSC Ensembl
chr12:120700376..120700427hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433180
Supporting Variants
Samples
Known GenesPXN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684884
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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