A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421568



Internal ID200635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81211433..81211433hg38UCSC Ensembl
chr16:81245038..81245038hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709824
Samples
Known GenesPKD1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421568
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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