A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690078



Internal ID113744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95990892..96016728hg38UCSC Ensembl
chr12:96384670..96410506hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3825837
hg1925837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508129
Supporting Variants
Samples
Known GenesHAL, LTA4H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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