A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690440



Internal ID114106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102962524..102962528hg38UCSC Ensembl
chr12:103356302..103356306hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544810
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690440
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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