A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690470



Internal ID114136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103549663..103549714hg38UCSC Ensembl
chr12:103943441..103943492hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381315
hg191315
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555590
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690470
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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