A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689871



Internal ID113537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87429146..87429155hg38UCSC Ensembl
chr12:87822923..87822932hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535327
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689871
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004527


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