A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690750



Internal ID114416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122685918..122691379hg38UCSC Ensembl
chr12:123170465..123175926hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385462
hg195462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143168
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690750
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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