A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473071



Internal ID250769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41420584..41426581hg38UCSC Ensembl
chr5:41420686..41426683hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg385998
hg195998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966413
Samples
Known GenesPLCXD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473071
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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