A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429791



Internal ID208626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17267651..17294702hg38UCSC Ensembl
chr1:17594146..17621197hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3827052
hg1927052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899891
Samples
Known GenesPADI3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429791
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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