A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966408



Internal ID44926
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 StatusS
Merged Variantsnsv5463226
Supporting Variants
Samples
Known GenesPLCXD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966408
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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