A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685124



Internal ID108790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124939687..124939782hg38UCSC Ensembl
chr12:125424233..125424328hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496762
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685124
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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