A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529092



Internal ID305129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45310323..45320607hg38UCSC Ensembl
chr20:43938963..43949247hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3810285
hg1910285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732605
Samples
Known GenesRBPJL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529092
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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