A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889644



Internal ID167193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117066084..117066981hg38UCSC Ensembl
chr1:117608706..117609603hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38898
hg19898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433736
Supporting Variants
Samples
Known GenesTTF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889644
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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