A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529010



Internal ID305048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:24494187..25093208hg38UCSC Ensembl
chr20:24474823..25073844hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38599022
hg19599022
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731690
Samples
Known GenesACSS1, APMAP, CST7, SYNDIG1, VSX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529010
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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