A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058289



Internal ID106728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49460104..49465855hg38UCSC Ensembl
chr12:49853887..49859638hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg385752
hg195752
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511702
Supporting Variants
Samples
Known GenesSPATS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058289
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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