A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058331



Internal ID106752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38854386..38854386hg38UCSC Ensembl
chr12:39248188..39248188hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382184
hg192184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534340
Supporting Variants
Samples
Known GenesCPNE8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058331
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.203055


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