A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418833



Internal ID197989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25249083..25249134hg38UCSC Ensembl
chr20:25229719..25229770hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731737
Samples
Known GenesPYGB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418833
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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