A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053208



Internal ID103329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12691038..12691089hg38UCSC Ensembl
chr12:12843972..12844023hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419356
Supporting Variants
Samples
Known GenesGPR19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053208
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002342


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