A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533365



Internal ID309255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81139892..81236510hg38UCSC Ensembl
chr16:81173497..81270115hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3896619
hg1996619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709811
Samples
Known GenesPKD1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533365
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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