A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054001



Internal ID103838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21663010..21689958hg38UCSC Ensembl
chr12:21815944..21842892hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3826949
hg1926949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511823
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054001
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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