A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895767



Internal ID171334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1315940..1316012hg38UCSC Ensembl
chr1:1251320..1251392hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415351
Supporting Variants
Samples
Known GenesCPSF3L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895767
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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