A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683953



Internal ID107619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78058182..78058235hg38UCSC Ensembl
chr12:78451962..78452015hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507513
Supporting Variants
Samples
Known GenesNAV3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683953
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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