A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463582



Internal ID241480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31940684..31943779hg38UCSC Ensembl
chr5:31940790..31943885hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg383096
hg193096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964154
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463582
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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