A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463226



Internal ID241135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41391193..41391288hg38UCSC Ensembl
chr5:41391295..41391390hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966408
Samples
Known GenesPLCXD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463226
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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