A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527137



Internal ID303243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23428335..23589000hg38UCSC Ensembl
chr20:23408972..23569637hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38160666
hg19160666
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731624
Samples
Known GenesCST11, CST13P, CST8, CST9L, CSTL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527137
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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