A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428414



Internal ID207285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109420965..109421124hg38UCSC Ensembl
chr1:109963587..109963746hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907901
Samples
Known GenesPSMA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428414
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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