A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892183



Internal ID168978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170674080..170674135hg38UCSC Ensembl
chr1:170643221..170643276hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421102
Supporting Variants
Samples
Known GenesPRRX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892183
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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