A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054083



Internal ID103886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24059112..24059207hg38UCSC Ensembl
chr12:24212046..24212141hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505712
Supporting Variants
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054083
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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