A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056138



Internal ID105249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18935992..19030112hg38UCSC Ensembl
chr12:19088926..19183046hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3894121
hg1994121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501170
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056138
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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