A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428439



Internal ID207309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109399995..109400078hg38UCSC Ensembl
chr1:109942617..109942700hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907899
Samples
Known GenesPSMA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428439
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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