A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415351



Internal ID194609
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 StatusM
Merged Variants
Supporting Variantsnssv16895767
Samples
Known GenesCPSF3L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415351
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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